Releases: monarch-initiative/mondo
Releases · monarch-initiative/mondo
v2025-04-01
New terms: 48
| Term |
|---|
| ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608) |
| spondyloepimetaphyseal dysplasia, Li-Shao-Li type (MONDO:0976230) |
| neuronopathy, distal hereditary motor, autosomal dominant 15 (MONDO:0976226) |
| epilepsy, idiopathic generalized, susceptibility to, 19 (MONDO:0976128) |
| Perrault syndrome 7 (MONDO:0976232) |
| neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (MONDO:0976131) |
| intestinal failure–associated liver disease (MONDO:0100615) |
| oocyte/zygote/embryo maturation arrest 22 (MONDO:0976137) |
| myopathy, myofibrillar, 13, with rimmed vacuoles (MONDO:0976133) |
| Charcot-Marie-tooth disease, axonal, type 2JJ (MONDO:0976227) |
| neurodevelopmental disorder with progressive spasticity and brain abnormalities (MONDO:0976233) |
| immunodeficiency 132b (MONDO:0976228) |
| autosomal dominant syndromic intellectual disability (MONDO:0100601) |
| tubulointerstitial kidney disease, autosomal dominant 6 (MONDO:0976234) |
| neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment (MONDO:0976236) |
| TOR1AIP1-related multisystem disorder (MONDO:0100591) |
| COMP-related skeletal dysplasia (MONDO:0100593) |
| premature ovarian failure 26 (MONDO:0976129) |
| spermatogenic failure, X-linked, 9 (MONDO:0976123) |
| COL1A2-related Ehlers-Danlos syndrome (MONDO:0100606) |
| heterotaxy, visceral, 13, autosomal (MONDO:0976134) |
| leukodystrophy, demyelinating, adult-onset (MONDO:0976138) |
| FAT4-related neurodevelopmental disorder (MONDO:0100603) |
| heterotaxy, visceral, 14, autosomal (MONDO:0976135) |
| mitochondrial dna depletion syndrome 21 (MONDO:0976132) |
| intellectual developmental disorder with polymicrogyria and seizures (MONDO:0976124) |
| neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (MONDO:0976130) |
| POLR-related leukodystrophy (MONDO:0100605) |
| short stature with nonspecific skeletal abnormalities (MONDO:0975810) |
| HP:0031690 |
| Muggenthaler-Chowdhury-Chioza syndrome (MONDO:0976127) |
| neurodevelopmental disorder with speech or visual impairment and brain hypomyelination (MONDO:0976125) |
| ocular pterygium-digital keloid dysplasia syndrome (MONDO:0976136) |
| COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602) |
| ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609) |
| intellectual developmental disorder, autosomal recessive 83 (MONDO:0976231) |
| SLC26A2-related skeletal dysplasia (MONDO:0100592) |
| intellectual disability, autosomal recessive (MONDO:0100597) |
| COL1A2-related osteogenesis imperfecta (MONDO:0100596) |
| VPS11-related neurological disorder (MONDO:0100617) |
| ciliary dyskinesia, primary, 54 (MONDO:0100607) |
| autosomal recessive syndromic intellectual disability (MONDO:0100598) |
| immunodeficiency 131 (MONDO:0976229) |
| syndromic congenital heart disease (MONDO:0100614) |
| neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (MONDO:0976126) |
| TOR1AIP1-related nuclear envelopathy (MONDO:0100604) |
| hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (MONDO:0100600) |
| COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599) |
Terms renamed: 21
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0011897 | leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism |
| MONDO:0970943 | spermatogenic failure, x-linked, 8 | spermatogenic failure, X-linked, 8 |
| MONDO:0054833 | charcot-marie-tooth disease, axonal, type 2DD | Charcot-Marie-tooth disease, axonal, type 2DD |
| MONDO:0010317 | intellectual disability, X-linked, with or without seizures, arx-related | intellectual disability, X-linked, with or without seizures, ARX-related |
| MONDO:0013029 | cerebellar ataxia type 9 | spinocerebellar ataxia 9 |
| MONDO:0100052 | acetazolamide-responsive hereditary episodic ataxia | obsolete acetazolamide-responsive hereditary episodic ataxia |
| MONDO:0016163 | autosomal dominant cerebellar ataxia type II | spinocerebellar ataxia 7 |
| MONDO:0000414 | childhood electroclinical syndrome | obsolete childhood electroclinical syndrome |
| MONDO:0006748 | epilepsia partialis continua | obsolete epilepsia partialis continua |
| MONDO:0044263 | obsolete lutheran suppressor, x-linked | obsolete lutheran suppressor, X-linked |
| MONDO:0020073 | adolescent-onset epilepsy syndrome | obsolete adolescent-onset epilepsy syndrome |
| MONDO:0002125 | status epilepticus | obsolete status epilepticus |
| MONDO:0000412 | neonatal period electroclinical syndrome | obsolete neonatal period electroclinical syndrome |
| MONDO:0100036 | variable-age onset epilepsy syndrome | obsolete variable-age onset epilepsy syndrome |
| MONDO:0040501 | ehlers-danlos syndrome, arthrochalasia type, 2 | Ehlers-Danlos syndrome, arthrochalasia type, 2 |
| MONDO:0014551 | short stature with nonspecific skeletal abnormalities | short stature with nonspecific skeletal abnormalities 1 |
| MONDO:0958322 | intellectual developmental disorder, x-linked, syndromic 37 | intellectual developmental disorder, X-linked, syndromic 37 |
| MONDO:0030869 | spermatogenic failures 50 | spermatogenic failure 50 |
| MONDO:0000413 | infancy electroclinical syndrome | obsolete infancy electroclinical syndrome |
| MONDO:0000595 | sexual and gender identity disorders | sexual disorder |
| MONDO:0958200 | intellectual developmental disorder, x-linked 113 | intellectual developmental disorder, X-linked 113 |
Text definitions added: 23
| Term | New Text Definition |
|---|---|
| TOR1AIP1-related nuclear envelopathy (MONDO:0100604) | A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function. |
| SLC26A2-related skeletal dysplasia (MONDO:0100592) | Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia. |
| COL1A2-related osteogenesis imperfecta (MONDO:0100596) | Any osteogenesis imperfecta in which the cause of the disease is a variant in the COL1A2 gene. |
| autosomal dominant syndromic intellectual disability (MONDO:0100601) | Autosomal dominant form of syndromic intellectual disability. |
| syndromic congenital heart disease (MONDO:0100614) | Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions. |
| ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608) | Any hypophosphatasia in which the cause of the disease is a variant with a dominant negative effect or haploinsufficiency in the ALPL gene. |
| ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609) | Any hypophosphatasia in which the cause of the disease is an autosomal recessive loss-of-function in the ALPL gene. |
| COMP-related skeletal dysplasia (MONDO:0100593) | Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia. |
| inflammatory bowel disease 30 (MONDO:0033643) | An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has material basis in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. |
| COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599) | Any Ehlers-Danlos syndrome in which the cause of the disease is a variant in the COL1A1 gene. This includes classic and arthrochalasia types as well as combined osteogenesis imperfecta and Ehlers-Danlos syndrome. |
| intestinal failure–associated liver disease (MONDO:0100615) | Liver disease found in patients on parenteral nutrition for intestinal failure. May develop with few clinical features. |
| retinitis pigmentosa 93 (MONDO:0030797) | Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene. |
| autosomal recessive syndromic intellectual disability (MONDO:0100598) | Autosomal recessive form of syndromic intellectual disability. |
| TOR1AIP1-related multisystem disorder (MONDO:0100591) | TOR1AIP1-related multisystem disorder is a rare, early-onset disorder affecting multiple organ systems that is caused by variation in the TOR1AIP1 gene. Clinical features reported in affected individuals are variable but may include hypotonia, dystonia, cerebellar atrophy, contractures, cardiomyopathy, microcephaly, cataract, deafness, skeletal anomalies, progeroid appearance and other facial dysmorphism, and nephrolithiasis. |
| COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602) | Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes. |
| FAT4-related neurodevelopmental disorder (MONDO:0100603) | Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell traffic... |
v2025-03-04
New terms: 71
| Term |
|---|
| cerebral cavernous malformations 5 (MONDO:0975952) |
| congenital disorder of glycosylation, type 1DD (MONDO:0975846) |
| SNUPN-related muscular dystrophy with or without multi-system involvement (MONDO:0100584) |
| arthrogryposis multiplex congenita 7, X-linked (MONDO:0975826) |
| myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities (MONDO:0975797) |
| Jeune syndrome - GRK2-related (MONDO:0100583) |
| autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant (MONDO:0700338) |
| anemia, congenital dyserythropoietic, type IVb (MONDO:0975829) |
| FAM20B-congenital disorder of glycosylation (MONDO:0100588) |
| autoinflammation, panniculitis, and dermatosis syndrome (MONDO:0975955) |
| peritonitis (MONDO:1010128) |
| fibromatosis, gingival, 6 (MONDO:0975841) |
| foveal hypoplasia 3 (MONDO:0975805) |
| encephalopathy, acute transient (MONDO:0975801) |
| immunodeficiency 128 (MONDO:0975834) |
| telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature (MONDO:0975957) |
| neurodevelopmental disorder with variable familial hypercholanemia (MONDO:0975877) |
| retinitis pigmentosa 98 (MONDO:0975840) |
| spermatogenic failure 96 (MONDO:0975842) |
| sudden unexpected infant death (MONDO:1010116) |
| leukodystrophy, hypomyelinating, 28 (MONDO:0975833) |
| orofaciodigital syndrome 21 (MONDO:0975827) |
| Kariminejad neurodevelopmental syndrome (MONDO:0975795) |
| Pan-Chung-Bellen syndrome (MONDO:0975953) |
| epilepsy, onset unknown (MONDO:0100580) |
| bronchiectasis and nasal polyposis (MONDO:0975835) |
| neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (MONDO:0975837) |
| immunodeficiency 127 (MONDO:0975832) |
| trichrome vitiligo (MONDO:1010122) |
| spastic paraplegia, mitochondrial (MONDO:0975951) |
| myoclonic epilepsy (MONDO:0100577) |
| loin pain hematuria syndrome (MONDO:1010111) |
| ALG10-congenital disorder of glycosylation (MONDO:0100589) |
| encapsulating peritoneal sclerosis (MONDO:1010131) |
| pancreatic agenesis 3 (MONDO:0975839) |
| myxedema coma (MONDO:1010100) |
| autoimmune disease with susceptibility to mycobacterium tuberculosis (MONDO:0975847) |
| spermatogenic failure 97 (MONDO:0975958) |
| GRHL3-related orofacial clefting (MONDO:0100579) |
| spinocerebellar ataxia 51 (MONDO:0975800) |
| methylmalonic aciduria and homocystinuria, cb1L type (MONDO:0975798) |
| brain malformation renal syndrome (MONDO:0975799) |
| X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018) |
| microphthalmia/coloboma 13 (MONDO:0975809) |
| Karayol-Borroto-Haghshenas neurodevelopmental syndrome (MONDO:0975836) |
| peritoneal carcinomatosis (MONDO:0700336) |
| furunculosis (MONDO:0100595) |
| renal tubular dysgenesis - ACE (MONDO:0700337) |
| premature ovarian failure 25 (MONDO:0975843) |
| myxedema heart disease (MONDO:1010108) |
| spastic paraplegia 93, autosomal recessive (MONDO:0975796) |
| sudden unexpected death in pediatrics (MONDO:1010120) |
| DNM1-encephalopathy and neurodevelopmental disorder (MONDO:0700339) |
| B3GALT6-congenital disorder of glycosylation (MONDO:0100586) |
| multiple mitochondrial dysfunctions syndrome 10 (MONDO:0975806) |
| TOR1AIP1-related myopathy (MONDO:0100582) |
| isolated short stature (MONDO:1010112) |
| basal ganglia calcification, idiopathic, 10, autosomal recessive (MONDO:0975875) |
| AARS1-related leukoencephalopathy (MONDO:1010132) |
| cholestasis, progressive familial intrahepatic, 13 (MONDO:0975807) |
| sudden unexplained death in childhood (MONDO:1010117) |
| FANCM Fanconi-like genomic instability disorder (MONDO:0100578) |
| intellectual developmental disorder, X-linked 114 (MONDO:0975828) |
| myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (MONDO:0975830) |
| intellectual developmental disorder, autosomal dominant 75 (MONDO:0975838) |
| generalized vitiligo (MONDO:1010125) |
| A4GALT-congenital disorder of glycosylation (MONDO:0100587) |
| neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities (MONDO:0975874) |
| Morimoto-Ryu-Malicdan neuromuscular syndrome (MONDO:0975848) |
| congenital myopathy 25 (MONDO:0975808) |
| hemolytic uremic syndrome, atypical, susceptibility to, 7 (MONDO:0100590) |
Terms renamed: 19
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0016676 | recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome | obsolete recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome |
| MONDO:0042975 | pseudoachondroplastic dysplasia 2 | obsolete pseudoachondroplastic dysplasia 2 |
| MONDO:0007037 | Achondroplasia | achondroplasia |
| MONDO:0014912 | infantile-onset periodic fever-panniculitis-dermatosis syndrome | autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive |
| MONDO:0800112 | non-atopic asthma | obsolete non-atopic asthma |
| MONDO:0015422 | orofaciodigital syndrome type 13 | obsolete orofaciodigital syndrome type 13 |
| MONDO:0031047 | stickler syndrome, IIa 6 | Stickler syndrome, type 6 |
| MONDO:0022577 | Billet Bear syndrome | obsolete Billet Bear syndrome |
| MONDO:0009068 | cytochrome-c oxidase deficiency disease | obsolete cytochrome-c oxidase deficiency disease |
| MONDO:0014376 | intellectual disability, autosomal dominant 27 | intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism |
| MONDO:0859001 | CPE-related Prader-Willi-like syndrome | obsolete CPE-related Prader-Willi-like syndrome |
| MONDO:0019804 | tracheomalacia | congenital tracheomalacia |
| MONDO:0010760 | XH antigen | obsolete XH antigen |
| MONDO:0018097 | West syndrome | infantile spasms |
| MONDO:0016624 | inherited deficiency anemia | hereditary anemia |
| MONDO:0004522 | peritonitis | infectious peritonitis |
| MONDO:0025419 | furunculosis | furunculosis, fish |
| MONDO:0030038 | glaucoma, primary closed-angle | hereditary glaucoma, primary closed-angle |
| MONDO:0016542 | immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | IL10-related early-onset inflammatory bowel disease |
Text definitions added: 31
| Term | New Text Definition |
|---|---|
| myoclonic epilepsy (MONDO:0100577) | A group of epilepsy syndromes in which myoclonic seizures are a prominent feature. |
| Jeune syndrome - GRK2-related (MONDO:0100583) | A form of Jeune syndrome caused by biallelic loss-of-function variants in the GRK2 gene. |
| mitochondrial complex IV deficiency, nuclear-type (MONDO:0033885) | A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. |
| furunculosis (MONDO:0100595) | A skin condition that is characterized by recurring furuncles, lesions primarily caused by Staphylococcus aureus infection of the hair follicles and surrounding skin. Furunculosis occurs more frequently in persons with immune systems disorders than in the general population. |
| encapsulating peritoneal sclerosis (MONDO:1010131) | A debilitating condition characterized by a fibrocollagenous membrane encasing the small intestine, resulting in recurrent small bowel obstructions. |
| peritoneal carcinomatosis (MONDO:0700336) | Cancer in which a carcinoma, usually of the digestive tract or female reproductive organs, has spread extensively throughout the peritoneum and causes tumors to grow on the peritoneum. Peritoneal carcinomatosis can happen in many types of cancer, but it is most common in people with cancers of the ovary, colon, rectum, stomach, pancreas, or appendix. |
| myxedema coma (MONDO:1010100) | A rare complication of hypothyroidism characterized by altered mental status, hypothermia, and symptoms related to the slowing of other organ systems. |
| TOR1AIP1-related myopathy (MONDO:0100582) | A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse. |
| FANCM Fanconi-like genomic instability disorder (MONDO:0100578) | FANCM Fanconi-like genomic instability disorder is autosomal recessive condition associated with an increased risk of cancer, infertility, and hypersensitivity to cytotoxic agents. |
| renal tubular dysgenesis - ACE (MONDO:0700337) | Any renal tubular dysgenesis in which the cause of the disease is a mutation in the ACE gene. |
| myxedema heart disease (MONDO:1010108) | A rare complication of hypothyroidism characterized by unexplained heart failure refractory to conventional treatment. |
| epilepsy, onset unknown (MONDO:0100580) | An epilepsy in which the type of seizure onset is unknown or unclear, making it uncertain whether it is a generalized or focal epilepsy. Seizures of unknown onset may still have features that can be classified. |
| GRHL3-related orofacial clefting (MONDO:0100579) | Any orofacial clefting in which the cause of the disease is a mutation in the GRHL3 gene. |
| hemolytic uremic syndrome, atypical, susceptibility to, 7 (MONDO:0100590) | An inherited susceptibility or predisposition to developing immunoglobulin-mediated membranoproliferative glomerulonephritis. |
| B3GALT6-congenital disorder of glycosylation (MONDO:0100586) | Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6. |
| DNM1-encephalopathy and neurodevelopmental disorder... |
v2025-02-04
New terms: 142
| Term |
|---|
| neuroaxonal dystrophy, VPS11-related, dog (MONDO:1012802) |
| skeletal dysplasia, COL11A2-related, dog (MONDO:1012736) |
| Parkinson disease, non-human animal (MONDO:1012984) |
| familial acute respiratory distress syndrome, ANLN-related, dog (MONDO:1012930) |
| neuromuscular channelopathy, KCNG1-related, cattle (MONDO:1012911) |
| progressive retinal atrophy, FAM161A-related, dog (MONDO:1012749) |
| multifocal symmetrical necrotizing encephalomyelopathy, Angus cattle (MONDO:1012696) |
| skeletal-cardio-enteric dysplasia, MAP2K2-related, cattle (MONDO:1012887) |
| oculoskeletal dysplasia, COL9A2-related, dog (MONDO:1012705) |
| childhood-onset idiopathic generalized epilepsy syndrome (MONDO:0800499) |
| polyneuropathy, NDRG1-related, dog (MONDO:1012796) |
| polyneuropathy, RAB3GAP1-related, dog (MONDO:1012762) |
| variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration (MONDO:0800495) |
| progressive retinal atrophy, NECAP1-related, dog (MONDO:1012806) |
| TMEM63B-related developmental and epileptic encephalopathy with anemia (MONDO:0800503) |
| childhood-onset self-limited focal epilepsy syndrome (MONDO:0800502) |
| palmoplantar hyperkeratosis, DSG1-related, dog (MONDO:1012832) |
| XY sex reversal, SRY-related, cattle (MONDO:1012655) |
| progressive retinal atrophy, MERTK-related, dog (MONDO:1012753) |
| von Willebrand disease III, domestic cat (MONDO:1012643) |
| early-infantile DEE (MONDO:0800491) |
| Waardenburg syndrome, MITF-related, golden hamster (MONDO:1012677) |
| X-linked progressive retinal atrophy 2, RPGR-related, dog (MONDO:1012702) |
| osteogenesis imperfecta, CREB3L1-related, domestic cat (MONDO:1012921) |
| Parkinson disease, PINK1-related, rhesus monkey (MONDO:1012876) |
| XX difference of sexual development, goat (MONDO:1012638) |
| spondylo-epiphyseal dysplasia tarda, X-linked, dog (MONDO:1012683) |
| osteogenesis imperfecta, type II, COL1A1-related, cattle (MONDO:1012798) |
| polyneuropathy, GJA9-related, dog (MONDO:1012795) |
| progressive degenerative myeloencephalopathy, PNPLA8-related, cattle (MONDO:1012627) |
| osteochondromatosis, EXT1-related, domestic cat (MONDO:1012935) |
| XY sex reversal, NR5A1-related, dog (MONDO:1012844) |
| XY sex reversal, SRY-related, Western roe deer (MONDO:1012654) |
| cone-rod dystrophy, RPGRIP1-related and MAP9-related, dog (MONDO:1012681) |
| XY difference of sexual development, horse (MONDO:1012716) |
| XX difference of sexual development, common carp (MONDO:1012631) |
| neuropathy with splayed forelimbs, UCHL1-related, cattle (MONDO:1012845) |
| XY sex reversal, sdY-related, Chinook salmon (MONDO:1012919) |
| progressive retinal atrophy, Whippet, dog (MONDO:1012782) |
| hereditary vitamin D-resistant rickets, VDR-related, dog (MONDO:1012679) |
| Parkinson disease, PINK1-related, crab-eating macaque (MONDO:1012875) |
| Parkinson disease, LRRK2-related, white-tufted-ear marmoset (MONDO:1012886) |
| XY sex reversal, SRY-related, rabbit (MONDO:1012656) |
| Waardenburg syndrome, EDNRB-related, sheep (MONDO:1012734) |
| polysaccharide storage myopathy, type 1, horse (MONDO:1012649) |
| multifocal retinopathy 2, BEST1-related, dog (MONDO:1012708) |
| progressive retinal atrophy, PDE6B-related, dog (MONDO:1012838) |
| familial isolated dilated cardiomyopathy (MONDO:0700335) |
| progressive retinal atrophy, CNGA1-related, dog (MONDO:1012765) |
| spinal muscular atrophy, LIX1-related, domestic cat (MONDO:1012888) |
| osteopetrosis, SLC4A2-related, cattle (MONDO:1012898) |
| early-onset retinal dystrophy, Bengal, domestic cat (MONDO:1012717) |
| osteogenesis imperfecta, COL1A2-related, dog (MONDO:1012791) |
| porcine stress syndrome, DMD-related, pig (MONDO:1012729) |
| neuronal ceroid lipofuscinosis, ATP13A2-related, dog (MONDO:1012707) |
| genetic epilepsy with febrile seizures plus spectrum (MONDO:0800489) |
| persistent truncus arteriosus, GATA6-related, cattle (MONDO:1012936) |
| progressive retinal atrophy, SLC4A3-related, dog (MONDO:1012710) |
| short QT syndrome, KCNH2-related, rabbit (MONDO:1012897) |
| Waardenburg syndrome, SOX10-related, pig (MONDO:1012903) |
| familial mesial temporal lobe epilepsy (MONDO:0800493) |
| neuroaxonal dystrophy, PLA2G6-related, dog (MONDO:1012787) |
| multifocal retinopathy 1, BEST1-related, dog (MONDO:1012682) |
| rod-cone dysplasia 1, PDE6B-related, dog (MONDO:1012630) |
| XX difference of sexual development, pig (MONDO:1012636) |
| progressive retinal atrophy, SAG-related, dog (MONDO:1012743) |
| von Willebrand disease I, pig (MONDO:1012641) |
| XX difference of sexual development, dog (MONDO:1012633) |
| XY difference of sexual development, dog (MONDO:1012714) |
| demyelinating disorder, Limousin cattle (MONDO:1012697) |
| X-linked canine shaking pup, PLP1-related, dog (MONDO:1012623) |
| retinal degeneration, CEP290-related, domestic cat (MONDO:1012658) |
| split spinal cord malformation type I, cattle (MONDO:1012823) |
| progressive degenerative myeloencephalopathy, PNPLA8-related, dog (MONDO:1012626) |
| neuroaxonal dystrophy, PLA2G6-related, sheep (MONDO:1012788) |
| rod-cone dysplasia 1a, PDE6B-related, dog (MONDO:1012722) |
| von Willebrand disease II, dog (MONDO:1012667) |
| osteochondromatosis, EXT2-related, dog (MONDO:1012652) |
| cancer, TP53-related, dog (MONDO:1012961) |
| retinal dysplasia, NDP-related, dog (MONDO:1012873) |
| skeletal dysplasia, PCYT1A-related, dog (MONDO:1012946) |
| variable-age onset idiopathic generalized epilepsy syndrome (MONDO:0800487) |
| Rett syndrome, MECP2-related, crab-eating macaque (MONDO:1012890) |
| XY sex reversal, SRY-related, horse (MONDO:1012653) |
| neuroaxonal dystrophy, TECPR2-related, dog (MONDO:1012763) |
| progressive retinal atrophy, Miniature Schnauzer, dog (MONDO:1012831) |
| ptosis, intellectual disability, retarded growth and mortality syndrome, UBE3B-related, cattle (MONDO:1012754) |
| multifocal retinopathy 3, BEST1-related, dog (MONDO:1012709) |
| complex skeletal dysplasia, LTBP3-related, domestic cat (MONDO:1012912) |
| polyneuropathy, ARHGEF10-related, dog (MONDO:1012748) |
| oculoskeletal dysplasia, COL9A3-related, dog (MONDO:1012704) |
| Parkinson disease, SNCA-related, rhesus monkey (MONDO:1012884) |
| demyelinating disease, non-human animal (MONDO:1012987) |
| progressive retinal atrophy, IFT122-related, dog (MONDO:1012861) |
| difference of sexual development, DMRT1-related, Japanese medaka (MONDO:1012732) |
| muscular dystrophy, COL6A3-related, dog (MONDO:1012835) |
| von Willebrand disease III, pig (MONDO:1012644) |
| split spinal cord malformation type II, cattle (MONDO:1012824) |
| neuromuscular disease, non-human animal (MONDO:1012983) |
| epilepsy with auditory features (MONDO:0800496) |
| polyneuropathy, SBF2-related, dog (MONDO:1012840) |
| autoimmune polyendocrinopathy, dog (MONDO:1012651) |
| xanthinuria, type II, dog (MONDO:1012739) |
| TFAP2B-related congenital heart disease spectrum disorder (MONDO:1010098) |
| osteogenesis imperfecta, type III, COL1A1-related, dog (MONDO:1012797) |
| thrombocytopenia, TUBB1-related, dog (MONDO:1012895) |
| neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy (MONDO:0800490) |
| X-linked progressive retinal atrophy, type 3, dog (MONDO:1012701) |
| vitamin D-dependent rickets, VDR-related, cat (MONDO:1012680) |
| XX difference of sexual development, llama (MONDO:1012637) |
| rod-cone dysplasia 2, RD3-related, dog (MONDO:1012661) |
| von Willebrand disease III, dog (MONDO:1012642) |
| Waardenburg syndrome, MITF-related, pig (MONDO:1012678) |
| XX difference of sexual development, Japanese medaka (MONDO:1012632) |
| XY difference of sexual development, domestic cat (MONDO:1012715) |
| childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy (MONDO:0800500) |
| skeletal dysplasia, FGF4-retrogene-related, dog (MONDO:1012799) |
| progressive retinal atrophy, IMPG2-related, dog (MONDO:1012842) |
| autoimmune disease, non-human animal (MONDO:1012985) |
| neuroaxonal dystrophy, MFN2-related, dog (MONDO:1012803) |
| muscular dystrophy, COL6A1-related, dog (MONDO:1012761) |
| autosomal dominant progressive retinal atrophy, RHO-related, dog (MONDO:1012673) |
| X-linked paralytic tremor, PLP1-related, rabbit (MONDO:1012625) |
| von Willebrand disease I, dog (MONDO:1012640) |
| xanthinuria, MOCOS-related, cattle (MONDO:1012740) |
| perinatal mortality syndrome, GCK-related, cattle (MONDO:1012939) |
| XX difference of sexual development, domestic cat (MONDO:1012634) |
| progressive retinal atrophy, KIF3B-related, domestic cat (MONDO:1012833) |
| tuberous sclerosis, TSC1-related, pig (MONDO:1012894) |
| multifocal symmetrical necrotizing encephalomyelopathy, Simmental cattle (MONDO:1012698) |
| von Willebrand disease II, horse (MONDO:1012668) |
| Y anomaly in low reproductive females, cattle (MONDO:1012735) |
| neonatal/infantile-onset self-limited epilepsy syndrome (MONDO:0800488) |
| XX difference of sexual development, horse (MONDO:1012635) |
| variable-age onset focal epilepsy syndrome (MONDO:0800492) |
| developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:0800501) |
| xanthinuria, XDH-related, dog (MONDO:1012900) |
| progressive retinal atrophy, CCDC66 related, dog (MONDO:1012703) |
| variable-age onset combined generalized and focal epilepsy syndrome (MONDO:0800494) |
| X-linked progressive retinal atrophy 1, RPGR-related, dog (MONDO:1012628) |
| retinal degeneration, GC1-related, chicken (MONDO:1012659) |
| childhood-onset genetic generalized epilepsy syndrome (MONDO:0800498) |
Terms renamed: 18
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0034099 | SYNGAP1-related de... |
v2025-01-07
New terms: 90
| Term |
|---|
| mucopolysaccharidosis II, Kaka (MONDO:1012664) |
| ichthyosis, ABCA12-related, cattle (MONDO:1012826) |
| congenital myopathy, SPTBN4-related, pig (MONDO:1012822) |
| ichthyosis, ABCA12-related, pig (MONDO:1012825) |
| laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog (MONDO:1012846) |
| glycogen storage disease IV, dog (MONDO:1012605) |
| congenital hypotrichosis, non-human animal (MONDO:1012977) |
| mucopolysaccharidosis IIIB, emu (MONDO:1012669) |
| hyperlipidemia, non-human animal (MONDO:1012975) |
| hypotrichosis, HR-related, domestic cat (MONDO:1012818) |
| neonatal cerebellar ataxia, GRM1-related, dog (MONDO:1012585) |
| glycogen storage disease IV, domestic cat (MONDO:1012606) |
| anemia, non-human animal (MONDO:1012981) |
| hyperbilirubinemia, non-human animal (MONDO:1012974) |
| long QT syndrome, KCNQ1-related, rabbit (MONDO:1012868) |
| canine multiple system degeneration, SERAC1-related, dog (MONDO:1012692) |
| hypotrichosis, HEPHL1-related, cattle (MONDO:1012821) |
| ichthyosis, KRT1-related, dog (MONDO:1012893) |
| junctional epidermolysis bullosa, LAMC2-related, horse (MONDO:1012726) |
| motor neuron disease, TMCO6-related, sheep (MONDO:1012880) |
| mucopolysaccharidosis I, domestic cat (MONDO:1012618) |
| hypotrichosis, KRT71-related, cattle (MONDO:1012792) |
| lysosomal storage disease, CNP-related, dog (MONDO:1012942) |
| ichthyosis, FA2H-related, cattle (MONDO:1012901) |
| ichthyosis, dog (MONDO:1012978) |
| heart disorder, non-human animal (MONDO:1012982) |
| lysosomal storage disease, ARSG related, dog (MONDO:1012699) |
| Leigh syndrome, SURF1-related, pig (MONDO:1012801) |
| hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey (MONDO:1012804) |
| hypertrophic cardiomyopathy, MYH7-related, domestic cat (MONDO:1012809) |
| muscular dystrophy, ANO5-related, rabbit (MONDO:1012828) |
| conjugated hyperbilirubinemia, sheep (MONDO:1012611) |
| laryngeal paralysis, RAPGEF6-related, dog (MONDO:1012815) |
| junctional epidermolysis bullosa, LAMC2-related, cattle (MONDO:1012727) |
| mesangiocapillary glomerulonephritis, type I, sheep (MONDO:1012615) |
| hypertrophic cardiomyopathy, MYH7-related, rabbit (MONDO:1012811) |
| ichthyosis, DSP-related, cattle (MONDO:1012829) |
| ichthyosis, ABHD5-related, dog (MONDO:1012879) |
| glycogen storage disease IV, horse (MONDO:1012607) |
| intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog (MONDO:1012613) |
| junctional epidermolysis bullosa, LAMB3-related, dog (MONDO:1012834) |
| lipid malabsorption, ACSL5-related, dog (MONDO:1012816) |
| junctional epidermolysis bullosa, LAMA3-related, dog (MONDO:1012723) |
| mucolipidosis, GNPTAB-related, domestic cat (MONDO:1012660) |
| hemifacial microsomia, domestic cat (MONDO:1012730) |
| ichthyosis, ASPRV1-related, dog (MONDO:1012786) |
| mucopolysaccharidosis II, dog (MONDO:1012665) |
| hereditary footpad hyperkeratosis, FAM83G-related, dog (MONDO:1012666) |
| nephritis, COL4A5-related, dog (MONDO:1012645) |
| junctional epidermolysis bullosa, LAMC2-related, sheep (MONDO:1012728) |
| conjugated hyperbilirubinemia, golden lion tamarin (MONDO:1012612) |
| junctional epidermolysis bullosa, LAMA3-related, cattle (MONDO:1012725) |
| autosomal dominant nephritis, dog (MONDO:1012646) |
| microcephaly, MFSD2A-related, sheep (MONDO:1012881) |
| muscular dystrophy-dystroglycanopathy, LARGE1-related, dog (MONDO:1012907) |
| inborn errors of metabolism, non-human animal (MONDO:1012979) |
| hypoparathyroidism, RAPGEF5-related, horse (MONDO:1012905) |
| atherosclerosis, APOE-related, rabbit (MONDO:1012776) |
| hypertrophic cardiomyopathy, ALMS1-related, domestic cat (MONDO:1012859) |
| unconjugated hyperbilirubinemia, horse (MONDO:1012609) |
| mucopolysaccharidosis IIIB, cattle (MONDO:1012672) |
| hypercholesterolemia, PCSK9-related, rabbit (MONDO:1012866) |
| hydrallantois, SLC12A1-related, cattle (MONDO:1012899) |
| junctional epidermolysis bullosa, LAMA3-related, horse (MONDO:1012724) |
| ichthyosis, PNPLA1-related, dog (MONDO:1012712) |
| Lewy body-like disease, CADPS2-related, yellow-crowned parrot (MONDO:1012937) |
| long QT syndrome, KCNE1-related, rabbit (MONDO:1012870) |
| hypotrichosis, HR-related, sheep (MONDO:1012820) |
| fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey (MONDO:1012608) |
| leukodystrophy, TSEN54-related, dog (MONDO:1012812) |
| hypogonadotropic hypogonadism, TAC3-related, domestic cat (MONDO:1012814) |
| hypertrophic cardiomyopathy, MYH7-related, pig (MONDO:1012810) |
| melanoma-bearing Libechov minipig, pig (MONDO:1012693) |
| muscular dystrophy, TNNT1-related, sheep (MONDO:1012841) |
| immunodeficiency syndrome, SLC5A3-related, horse (MONDO:1012711) |
| microphthalmia-4, chicken (MONDO:1012616) |
| mucolipidosis, non-human animal (MONDO:1012980) |
| membranoproliferative glomerulonephritis, CFH-related, pig (MONDO:1012614) |
| limb-girdle muscular dystrophy, SGCA-related, dog (MONDO:1012849) |
| muscular dystrophy with reduced β-sarcoglycan, domestic cat (MONDO:1012718) |
| hypotrichosis, HR-related, pig (MONDO:1012819) |
| mucopolysaccharidosis IIIB, dog (MONDO:1012670) |
| junctional epidermolysis bullosa, ITGB4-related, cattle (MONDO:1012758) |
| hair shaft dysplasia, DSG4-related, domestic cat (MONDO:1012902) |
| junctional epidermolysis bullosa, ITGB4-related, sheep (MONDO:1012759) |
| long QT syndrome, KCNH2-related, rabbit (MONDO:1012869) |
| intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog (MONDO:1012737) |
| mucopolysaccharidosis IIIB, pig (MONDO:1012671) |
| hyperkeratosis, non-human animal (MONDO:1012976) |
| mucopolysaccharidosis I, dog (MONDO:1012617) |
Terms renamed: 1
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0044715 | metopic ridging-ptosis-facial dysmorphism syndrome | obsolete metopic ridging-ptosis-facial dysmorphism syndrome |
Text definitions added: 93
| Term | New Text Definition |
|---|---|
| neonatal cerebellar ataxia, GRM1-related, dog (MONDO:1012585) | Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene. |
| muscular dystrophy, ANO5-related, rabbit (MONDO:1012828) | Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing. |
| microcephaly, MFSD2A-related, sheep (MONDO:1012881) | Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene. |
| hypercholesterolemia, PCSK9-related, rabbit (MONDO:1012866) | Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing. |
| long QT syndrome, KCNQ1-related, rabbit (MONDO:1012868) | Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing. |
| hyperkeratosis, non-human animal (MONDO:1012976) | Hyperkeratosis that occurs in non-human animals. |
| hypoparathyroidism, RAPGEF5-related, horse (MONDO:1012905) | Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures. |
| laryngeal paralysis, RAPGEF6-related, dog (MONDO:1012815) | Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene. |
| lipid malabsorption, ACSL5-related, dog (MONDO:1012816) | An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene. |
| hypotrichosis, KRT71-related, cattle (MONDO:1012792) | Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene. |
| long QT syndrome, KCNH2-related, rabbit (MONDO:1012869) | Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing. |
| hydrallantois, SLC12A1-related, cattle (MONDO:1012899) | Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene. |
| junctional epidermolysis bullosa, LAMC2-related, sheep (MONDO:1012728) | Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene. |
| melanoma-bearing Libechov minipig, pig (MONDO:1012693) | Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma. |
| mucolipidosis, non-human animal (MONDO:1012980) | Mucolipidosis that occurs in non-human animals. |
| hemifacial microsomia, domestic cat (MONDO:1012730) | Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats. |
| hereditary footpad hyperkeratosis, FAM83G-related, dog (MONDO:1012666) | An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene. |
| hypertrophic cardiomyopathy, MYH7-related, pig (MONDO:1012810) | Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene. |
| ichthyosis, ABCA12-related, pig (MONDO:1012825) | Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene. |
| mucopolysaccharidosis II, Kaka (MONDO:1012664) | Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas. |
| conjugated hyperbilirubinemia, golden lion tamarin (MONDO:1012612) | A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intra... |
v2024-12-03
New terms: 109
| Term |
|---|
| congenital muscular dystonia SLC6A5-related, cattle (MONDO:1012684) |
| epidermolysis bullosa simplex, KRT14-related, domestic cat (MONDO:1012837) |
| primary open angle glaucoma, ADAMTS10-related, dog (MONDO:1012742) |
| epidermolysis bullosa simplex, KRT5-related, dog (MONDO:1012779) |
| deafness, CDH23-related, dog (MONDO:1012940) |
| cleft palate, MYH3-related, cattle (MONDO:1012941) |
| cleft lip, GADD45G-related, rabbit (MONDO:1012889) |
| GM2 gangliosidosis, HEXA-related, pig (MONDO:1012688) |
| oculocutaneous albinism, TYR-related, tufted capuchin (MONDO:1012591) |
| dilated cardiomyopathy, DMD-related, rabbit (MONDO:1012850) |
| encephalopathy, STXBP1-related, crab-eating macaque (MONDO:1012925) |
| GM2 gangliosidosis, rabbit (MONDO:1012691) |
| dilated cardiomyopathy, RBM20-related, dog (MONDO:1012877) |
| dwarfism, GON4L-related, cattle (MONDO:1012766) |
| linkeropathy (MONDO:1040022) |
| deafness, OSBPL2-related, pig (MONDO:1012874) |
| hemihydranencephaly (MONDO:1040007) |
| oculocutaneous albinism, TYR-related, rabbit (MONDO:1012598) |
| cone-rod dystrophy, NPHP4-related, dog (MONDO:1012685) |
| deafness, GJB2-related, pig (MONDO:1012896) |
| NDUFB11-related disorders (MONDO:1040023) |
| cleft palate, DLX6-related, dog (MONDO:1012750) |
| pituitary dwarfism, LHX3-related, dog (MONDO:1012857) |
| dwarfism, B4GALT7-related, horse (MONDO:1012777) |
| deafness, EPS8L2-related, dog (MONDO:1012934) |
| KCND2-related neurodevelopmental disorder with or without seizures (MONDO:1040003) |
| cleft primary palate, ESRP2-related, chicken (MONDO:1012933) |
| congenital liver fibrosis, PKHD1-related, horse (MONDO:1012756) |
| PRPF19-related neurodevelopmental disorder (MONDO:1040005) |
| cerebral dysgenesis, PEA15 related, domestic cat (MONDO:1012847) |
| cystinuria, SLC3A1-related, domestic cat (MONDO:1012600) |
| fragile X syndrome, FMR1-related, white-tufted-ear marmoset (MONDO:1012904) |
| GM2 gangliosidosis, domestic cat (MONDO:1012603) |
| PPFIA3-related neurodevelopmental disorder (MONDO:1040014) |
| DHDDS-related syndrome (MONDO:1010097) |
| Charcot-Marie-Tooth disease, non-human animal (MONDO:1012964) |
| cryopyrin-associated periodic syndrome, NLRP3-related, pig (MONDO:1012908) |
| dwarfism, ANKRD28-related, cattle (MONDO:1012943) |
| paroxysmal dyskinesia, SOD1-related, dog (MONDO:1012862) |
| craniomandibular osteopathy, SLC37A2-related, dog (MONDO:1012830) |
| epidermolysis bullosa simplex, KRT5-related, cattle (MONDO:1012780) |
| GM2 gangliosidosis, HEXA-related, sheep (MONDO:1012690) |
| congenital eye malformation, SIX6-related, dog (MONDO:1012808) |
| GM2 gangliosidosis, dog (MONDO:1012602) |
| osteochondrodysplasia, SLC13A1-related, dog (MONDO:1012675) |
| epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related, dog (MONDO:1012863) |
| GM2 gangliosidosis, HEXA-related, American flamingo (MONDO:1012686) |
| hereditary chondrodysplasia, dog (MONDO:1012738) |
| deafness, OTOF-related, sheep (MONDO:1012891) |
| chondrodysplasia, UGDH-related, domestic cat (MONDO:1012932) |
| oculocutaneous albinism, TYR-related, humpback whale (MONDO:1012596) |
| autosomal dominant cystinuria, SLC3A1-related, dog (MONDO:1012744) |
| oculocutaneous albinism, TYR-related, domestic cat (MONDO:1012595) |
| primary open angle glaucoma, ADAMTS17-related, dog (MONDO:1012764) |
| oculocutaneous albinism, TYR-related, water buffalo (MONDO:1012590) |
| congenital myasthenic syndrome, CHRNE-related, cattle (MONDO:1012621) |
| CTR9-related neurodevelopmental disorder (MONDO:1040006) |
| sex-limited cystinuria, dog (MONDO:1012746) |
| autosomal dominant cystinuria, SLC7A9-related, dog (MONDO:1012745) |
| geleophysic dysplasia, ADMATSL2-related, dog (MONDO:1012700) |
| skeletal dysplasia, non-human animal (MONDO:1012973) |
| primary ciliary dyskinesia, NME5-related, dog (MONDO:1012807) |
| oculocutaneous albinism, TYR-related, dog (MONDO:1012592) |
| CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy (MONDO:1040008) |
| dwarfism, ACAN-related, cattle (MONDO:1012663) |
| dwarfism, PRKG2-related, dog (MONDO:1012694) |
| cystinuria, SLC7A9-related, domestic cat (MONDO:1012773) |
| sex-linked dwarfism, GHR-related, chicken (MONDO:1012601) |
| hearing loss disorder, non-human animal (MONDO:1012969) |
| oculocutaneous albinism, TYR-related, cattle (MONDO:1012597) |
| paroxysmal dyskinesia, PIGN-related, dog (MONDO:1012781) |
| 22q-related schwannomatosis (MONDO:1030016) |
| chondrodysplasia, SLC13A1-related, sheep (MONDO:1012676) |
| dwarfism, non-human animal (MONDO:1012971) |
| dwarfism, PRKG2-related, cattle (MONDO:1012695) |
| chondrodysplasia, EVC2-related, cattle (MONDO:1012931) |
| pituitary dwarfism, POU1F1-related, dog (MONDO:1012858) |
| deafness, KLF7-related, dog (MONDO:1012865) |
| oculocutaneous albinism, HPS5-related, domestic cat (MONDO:1012794) |
| primary ciliary dyskinesia, CCDC65-related, sheep (MONDO:1012872) |
| congenital myasthenic syndrome, CHRNE-related, dog (MONDO:1012620) |
| GM2 gangliosidosis, pig (MONDO:1012604) |
| TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations (MONDO:1040001) |
| encephalopathy, ASPA-related, domestic cat (MONDO:1012864) |
| dwarfism, ACAN-related, horse (MONDO:1012662) |
| oculocutaneous albinism, TYR-related, domestic ferret (MONDO:1012594) |
| oculocutaneous albinism, TYR-related, red fox (MONDO:1012593) |
| cystinuria, non-human animal (MONDO:1012968) |
| deafness, LOXHD1-related, dog (MONDO:1012871) |
| GM2 gangliosidosis, HEXA-related, dog (MONDO:1012687) |
| hereditary neurological disease, non-human animal (MONDO:1012972) |
| congenital disorder of glycosylation, non-human animal (MONDO:1012966) |
| oculocutaneous albinism, TYR-related, Japanese raccoon dog (MONDO:1012588) |
| Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan, cattle (MONDO:1012733) |
| Charcot Marie Tooth disease, FGD4-related, cattle (MONDO:1012882) |
| cholesterol deficiency, APOB-related, cattle (MONDO:1012760) |
| autosomal recessive cystinuria, SLC3A1-related, dog (MONDO:1012599) |
| oculocutaneous albinism, TYR-related, Japanese ratsnake (MONDO:1012586) |
| Chiari-like malformation, dog (MONDO:1012741) |
| GM2 gangliosidosis, Muntjak deer (MONDO:1012689) |
| epidermolysis bullosa simplex, PLEC-related, dog (MONDO:1012778) |
| oculocutaneous albinism, TYR-related, American mink (MONDO:1012587) |
| inherited auditory system disease, non-human animal (MONDO:1012970) |
| oculocutaneous albinism, TYR-related, Japanese medaka (MONDO:1012589) |
| congenital disorder of glycosylation, GALNT2-related, cattle (MONDO:1012883) |
| dental-skeletal-retinal anomaly, MIA3-related, dog (MONDO:1012909) |
| congenital muscular dystrophy, LAMA2-related, dog (MONDO:1012906) |
| liver disorder, non-human animal (MONDO:1012967) |
| oculocutaneous albinism, HPS5-related, three-spined stickleback (MONDO:1012793) |
Terms renamed: 30
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0022869 | coronary arteries congenital malformation | obsolete coronary arteries congenital malformation |
| MONDO:0020175 | malignant tumor of palpebral epidermis | obsolete malignant tumor of palpebral epidermis |
| MONDO:0022982 | die Smulders Vles Fryns syndrome | obsolete die Smulders Vles Fryns syndrome |
| MONDO:0042724 | macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations | obsolete macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations |
| MONDO:0015985 | bone dysplasia, Azouz type | obsolete bone dysplasia, Azouz type |
| MONDO:0008070 | nemaline myopathy 3 | congenital myopathy 2a, typical, autosomal dominant |
| MONDO:0020659 | upper tract urothelial carcinoma | obsolete upper tract urothelial carcinoma |
| MONDO:0009455 | immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes | obsolete immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes |
| MONDO:0000584 | B cell linker protein deficiency | obsolete B cell linker protein deficiency |
| MONDO:0035454 | B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome | obsolete B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome |
| MONDO:0000169 | microphthalmia, isolated, with cataract | obsolete microphthalmia, isolated, with cataract |
| MONDO:0859345 | branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | obsolete branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome |
| MONDO:0030978 | endove syndrome, limb-only type | ENDOVE syndrome, limb-only type |
| MONDO:0008597 | trichorhinophalangeal syndrome, type III | obsolete trichorhinophalangeal syndrome, type III |
| MONDO:0014299 | schwannomatosis 2 | LZTR1-related schwannomatosis |
| MONDO:0034823 | oral-facial-digital syndrome with short stature and brachymesophalangy | obsolete oral-facial-digital syndrome with short stature and brachymesophalangy |
| MONDO:0006465 | thyroid gland oncocytic follicular carcinoma | obsolete thyroid gland oncocytic follicular carcinoma |
| MONDO:0035433 | calpain-3-related limb-girdle muscular dystrophy D4 | obsolete calpain-3-related limb-girdle muscular dystrophy D4 |
| MONDO:0022858 | continuous spike-wave during slow sleep syndrome | obsolete continuous spike-wave during slow sleep syndrome |
| MONDO:0024517 | schwannomatosis 1 | SMARCB1-related schwannomatosis |
| MONDO:0859569 | braddock-carey syndrome 1 | Braddock-Carey syndrome 1 |
| MONDO:0100010 | tendinopathy | disease of the tendon |
| MONDO:0042965 | Machado-Joseph disease type 5 | obsol... |
v2024-11-05
New terms: 71
| Term |
|---|
| generalized epilepsy (MONDO:0100574) |
| abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860) |
| centronuclear myopathy, DNM2-related, dog (MONDO:1012922) |
| ametapodia-1, chicken (MONDO:1012583) |
| arthrogryposis multiplex congenita, AGRN-related, cattle (MONDO:1012800) |
| Alzheimer disease, APP-related, dog (MONDO:1012949) |
| arachnomelia syndrome, non-human animal (MONDO:1012955) |
| cataract, NID1-related, cattle (MONDO:1012755) |
| arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706) |
| cataract, CPAMD8-related, cattle (MONDO:1012790) |
| cancer, TP53-related, golden hamster (MONDO:1012767) |
| arthrogryposis multiplex congenita, CHRNB1-related, cattle (MONDO:1012772) |
| amyotrophic lateral sclerosis, SOD1-related, pig (MONDO:1012913) |
| cerebellar ataxia, SELENOP-related, dog (MONDO:1012878) |
| Alzheimer disease, PSEN1-related, crab-eating macaque (MONDO:1012951) |
| centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721) |
| ataxia, HACE1-related, dog (MONDO:1012918) |
| hereditary generalized epilepsy (MONDO:0100576) |
| amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914) |
| spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783) |
| hereditary ataxia, non-human animal (MONDO:1012959) |
| amyotrophic lateral sclerosis, TARDBP-related, Rhesus monkey (MONDO:1012915) |
| canine hereditary ataxia, RAB24-related, dog (MONDO:1012747) |
| amyotrophic lateral sclerosis, TARDBP-related, pig (MONDO:1012916) |
| cataract, non-human animal (MONDO:1012962) |
| ametapodia, chicken (MONDO:1012947) |
| progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731) |
| cancer, RUNX-related, pig (MONDO:1012775) |
| abdominal hernia, TWIST1-related, cattle (MONDO:1012920) |
| cataract, ADAMTSL4-related, cattle (MONDO:1012923) |
| Alzheimer disease, APP-related, Rhesus monkey (MONDO:1012928) |
| chondrodysplasia, COL2A1-related, pig (MONDO:1012751) |
| benign familial juvenile epilepsy, LGI2-related, dog (MONDO:1012713) |
| Alzheimer disease, APP-related, white-tufted-ear marmoset (MONDO:1012926) |
| cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789) |
| ametapodia-2, chicken (MONDO:1012719) |
| cataract, MIP-related, giant panda (MONDO:1012851) |
| cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945) |
| spinocerebellar ataxia, ATXN3-related, white-tufted-ear marmoset (MONDO:1012910) |
| Alzheimer disease, APP-related, crab-eating macaque (MONDO:1012927) |
| amyotrophic lateral sclerosis, non-human animal (MONDO:1012954) |
| centronuclear myopathy, HACD1-related, dog (MONDO:1012674) |
| spinocerebellar ataxia, ITPR1-related, dog (MONDO:1012785) |
| atactic disorder, non-human animal (MONDO:1012958) |
| genetic generalized epilepsy (MONDO:0100575) |
| cerebellar degeneration-myositis complex, SLC25A12-related, dog (MONDO:1012843) |
| arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839) |
| cerebellar ataxia, non-human animal (MONDO:1012956) |
| Alzheimer disease, PSEN1-related, pig (MONDO:1012917) |
| hereditary cerebellar ataxia, non-human animal (MONDO:1012960) |
| neurodegenerative disease, non-human animal (MONDO:1012953) |
| Alzheimer disease, SORL1-related, pig (MONDO:1012938) |
| Alzheimer disease, APP-related, pig (MONDO:1012929) |
| spinocerebellar ataxia, SPTBN2-related, dog (MONDO:1012784) |
| 60,XX/90,XXY disorder of sexual development, cattle (MONDO:1012852) |
| cerebellar cortical degeneration, SNX14-related, dog (MONDO:1012774) |
| cancer, TP53-related, pig (MONDO:1012769) |
| spinocerebellar ataxia, SCN8A-related, dog (MONDO:1012805) |
| combined generalized and focal epilepsy (MONDO:0100573) |
| hereditary cerebellar ataxia, KCNIP4-related, dog (MONDO:1012827) |
| cataract, FYCO1-related, dog (MONDO:1012924) |
| arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584) |
| amelogenesis imperfecta, non-human animal (MONDO:1012952) |
| cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757) |
| centronuclear myopathy, non-human animal (MONDO:1012963) |
| amelogenesis imperfecta, FAM83H-related, rabbit (MONDO:1012944) |
| congenital bovine chondrodysplasia, COL2A1-related, cattle (MONDO:1012752) |
| cerebellar ataxia, dog (MONDO:1012957) |
| Alzheimer disease, PSEN1-related, white-tufted-ear marmoset (MONDO:1012950) |
| cancer, TP53-related, crab-eating macaque (MONDO:1012768) |
| spinocerebellar ataxia, SLC12A6-related, dog (MONDO:1012836) |
Terms renamed: 13
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0007558 | benign occipital epilepsy | self-limited childhood occipital epilepsy |
| MONDO:0020307 | benign childhood occipital epilepsy, Panayiotopoulos type | self-limited epilepsy with autonomic seizures |
| MONDO:1011424 | Complement component 2 deficiency, non-human animal | complement component 2 deficiency, non-human animal |
| MONDO:0020631 | epileptic encephalopathy, infantile or early childhood, 2 | developmental and epileptic encephalopathy 92 |
| MONDO:0020630 | epileptic encephalopathy, infantile or early childhood, 1 | developmental and epileptic encephalopathy 91 |
| MONDO:0010595 | Sertoli cell-only syndrome | obsolete Sertoli cell-only syndrome |
| MONDO:0005579 | epilepsy, idiopathic generalized | idiopathic generalized epilepsy |
| MONDO:1011423 | Complement component 6 deficiency, non-human animal | complement component 6 deficiency, non-human animal |
| MONDO:0020632 | epileptic encephalopathy, infantile or early childhood, 3 | developmental and epileptic encephalopathy 93 |
| MONDO:0015424 | lethal chondrodysplasia, Moerman type | obsolete lethal chondrodysplasia, Moerman type |
| MONDO:0007039 | neurofibromatosis type 2 | NF2-related schwannomatosis |
| MONDO:0015346 | Jeavons syndrome | epilepsy with eyelid myoclonia |
| MONDO:0020308 | benign childhood occipital epilepsy, Gastaut type | childhood occipital visual epilepsy |
Text definitions added: 73
| Term | New Text Definition |
|---|---|
| centronuclear myopathy 2, BIN1-related, dog (MONDO:1012721) | Any centronuclear myopathy that occurs in dogs due to a mutation in the BIN1 gene. |
| cancer, RUNX-related, pig (MONDO:1012775) | Any cancer that occurs in pigs due to a mutation in the RUNX gene created by genetic engineering or gene editing. |
| chondrodysplasia, COL2A1-related, pig (MONDO:1012751) | A severe skeletal dysplasia characterized by shortened long bones, abnormal vertebrae, depressed nasal bridge, and cleft palate that occurs in pigs due to a mutation in the COL2A1 gene created by genetic engineering or gene editing. |
| arachnomelia syndrome, SUOX-related, cattle (MONDO:1012584) | Any arachnomelia syndrome that occurs in cattle due to a mutation in the SUOX gene. |
| arachnomelia syndrome, MOCS1-related, cattle (MONDO:1012706) | Any arachnomelia syndrome that occurs in cattle due to a mutation in the MOCS1 gene. |
| cerebellar ataxia, non-human animal (MONDO:1012956) | Cerebellar ataxia that occurs in non-human animals. |
| abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit (MONDO:1012860) | Abnormal locomotion defined by the loss of typical jumping and blindness at birth due to retinal dysplasia and early-onset cataracts that occurs in rabbits due to a mutation in the RORB gene. |
| Alzheimer disease, APP-related, pig (MONDO:1012929) | Alzheimer disease that occurs in pigs due to a mutation in the APP gene created by genetic engineering or gene editing. |
| cerebellar hypoplasia, VLDLR-associated, dog (MONDO:1012757) | Any cerebellar ataxia that occurs in dogs due to a mutation in the VLDLR gene. |
| cerebellar ataxia, dog (MONDO:1012957) | Cerebellar ataxia that occurs in dogs. |
| cerebellar ataxia, ATP1B2-related, dog (MONDO:1012789) | Any cerebellar ataxia that occurs in dogs due to a mutation in the ATP1B2 gene. |
| arachnomelia syndrome, non-human animal (MONDO:1012955) | A hereditary malformation of the skeletal system in non-human animals. |
| ametapodia-2, chicken (MONDO:1012719) | Any ametopodia that occurs in chickens with recessive inheritance. |
| centronuclear myopathy, HACD1-related, dog (MONDO:1012674) | Any centronuclear myopathy that occurs in dogs due to a mutation in the HACD1 gene. |
| spinocerebellar ataxia, KCNJ10-related, dog (MONDO:1012783) | Any spinocerebellar ataxia that occurs in dogs due to a mutation in the KCNJ10 gene. |
| combined generalized and focal epilepsy (MONDO:0100573) | Any epilepsy where patients have both generalized and focal seizure types, with interictal and/or ictal EEG findings that accompany both seizure types. Patients with Dravet syndrome and Lennox-Gastaut syndrome may have combined focal and generalized epilepsy. |
| cerebellar ataxia, SELENOP-related, dog (MONDO:1012878) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SELENOP gene. |
| cerebellar abiotrophy, VMP1-related, dog (MONDO:1012945) | Any cerebellar abiotrophy that occurs in dogs due to a mutation in the VMP1 gene. |
| amyotrophic lateral sclerosis, TARDBP-related, crab-eating macaque (MONDO:1012914) | Any amyotrophic lateral sclerosis that occurs in crab-eating macaque due to a mutation in the TARDBP gene created by genetic engineering or gene editing. |
| progressive early-onset cerebellar ataxia, SEL1L-related, dog (MONDO:1012731) | Any cerebellar ataxia that occurs in dogs due to a mutation in the SEL1L gene. |
| cataract, MIP-related, giant panda (MONDO:1012851) | Any cataract that occurs in giant pandas due to a mutation in the MIP gene. |
| arthrogryposis multiplex congenita, KIF21A-related, pig (MONDO:1012839) | Any arthrogryposis multiplex congenita that occurs in pigs due to a mutation in the KIF21A gene. |
| Alzheimer disease, PSEN1-related... |
v2024-10-01
New terms: 164
| Term |
|---|
| PDE6C-related retinopathy (MONDO:1040028) |
| polycystic kidney disease, PKD2-related, pig (MONDO:1011106) |
| neuronal ceroid lipofuscinosis, CLN8, dog (MONDO:1010894) |
| neuronal ceroid lipofuscinosis, Japanese macaque (MONDO:1010899) |
| inherited rickets, DMP1-related, sheep (MONDO:1011197) |
| Parkinson disease 26, autosomal dominant, susceptibility to (MONDO:0975748) |
| GM2 gangliosidosis, springbok (MONDO:1010882) |
| HGSNAT-related retinopathy (MONDO:1040040) |
| glycogen storage disease, AGL-related, dog (MONDO:1010717) |
| GM2 gangliosidosis, HEXB-related dog (MONDO:1010883) |
| Niemann-Pick disease, NPC1-related, domestic cat (MONDO:1010874) |
| acquired porphyria (MONDO:1030015) |
| spastic triplegia (MONDO:0700279) |
| leukocyte adhesion deficiency, ITGB2-related, dog (MONDO:1010727) |
| neuronal ceroid lipofuscinosis, CLN5-related, dog (MONDO:1010887) |
| neuronal ceroid lipofuscinosis, CLN6-related, sheep (MONDO:1010881) |
| tyrosinemia type 1, FAH-related, pig (MONDO:1010720) |
| neuronal ceroid lipofuscinosis, CLN6-related, domestic cat (MONDO:1010880) |
| primary hyperoxaluria, AGXT-related, dog (MONDO:1011100) |
| limb-girdle muscular dystrophy, SGCD-related, dog (MONDO:1010934) |
| vitamin D dependent rickets, CYP27B1-related, dog (MONDO:1011183) |
| persistent atrial fibrillation (MONDO:1030009) |
| ataxic diplegic cerebral palsy (MONDO:0700283) |
| BBS2-related ciliopathy (MONDO:1040048) |
| BBS7-related ciliopathy (MONDO:1040042) |
| thyroid gland mucinous carcinoma (MONDO:0971036) |
| hypomyopathic dermatomyositis (MONDO:1010089) |
| achromatopsia, CNGB3-related, cattle (MONDO:1011257) |
| thyroid gland mixed medullary and follicular cell-derived carcinoma (MONDO:0971035) |
| leukocyte adhesion deficiency, FERMT3-related, dog (MONDO:1010736) |
| FZD4-related exudative vitreoretinopathy (MONDO:1040041) |
| sphingomyelin lipidosis, raccoon (MONDO:1010896) |
| neuronal ceroid lipofuscinosis, MFSD8-related, dog (MONDO:1010900) |
| anti-NXP2 dermatomyositis (MONDO:1010084) |
| primary hyperoxaluria, GRHPR-related, domestic cat (MONDO:1011062) |
| anti-MDA5 dermatomyositis (MONDO:1010064) |
| vitamin D dependent rickets type 1A, CYP27B1-related, domestic cat (MONDO:1011184) |
| glycogen storage disease, PYGM-related, cattle (MONDO:1010703) |
| LRIT3-related retinopathy (MONDO:1040035) |
| PRPH2-related retinopathy (MONDO:1040055) |
| hypophosphatemic rickets, DMP1-related, rabbit (MONDO:1011198) |
| neuronal ceroid lipofuscinosis, CLN3-related, pig (MONDO:1010903) |
| rod-cone dysplasia, PCARE-related, dog (MONDO:1011265) |
| pediatric high-grade glioma (MONDO:1010030) |
| IMPG1-related recessive retinopathy (MONDO:1040037) |
| neuronal ceroid lipofuscinosis, PPT1-related, dog (MONDO:1010890) |
| GM1 gangliosidosis, GLB1-related, domestic cat (MONDO:1010846) |
| thyroid gland cribriform morular carcinoma (MONDO:0971034) |
| leukocyte adhesion deficiency, ITGB2-related, domestic cat (MONDO:1010728) |
| neuronal ceroid lipofuscinosis, PPT1-related, sheep (MONDO:1010891) |
| auto-brewery syndrome (MONDO:0971031) |
| spermatogenic failure 95 (MONDO:0975747) |
| Niemann-Pick disease, SMPD1-related, domestic cat (MONDO:1010897) |
| rod-cone dysplasia, PDE6A-related, dog (MONDO:1011254) |
| achromatopsia, CNGB3-related, dog (MONDO:1011256) |
| spastic paraplegia 92, autosomal recessive (MONDO:0975746) |
| reactive angioendotheliomatosis (MONDO:0975756) |
| mucopolysaccharidosis, GUSB-related, dog (MONDO:1010871) |
| glycogen storage disease II, Japanese quail (MONDO:1010849) |
| IMPDH1-related retinopathy (MONDO:1040051) |
| pseudo vitamin D-deficiency rickets, CYP27B1-related, pig (MONDO:1011185) |
| hypertensive urgency (MONDO:1030007) |
| POLR3-related leukodystrophy (MONDO:0700282) |
| cone-rod dystrophy, GUCY2D-related, pig (MONDO:1011272) |
| pseudomyogenic hemangioendothelioma (MONDO:0975754) |
| mucopolysaccharidosis, ARSB-related, domestic cat (MONDO:1010870) |
| MKKS-related ciliopathy (MONDO:1040050) |
| glycogen storage disease, GAA-related, cattle (MONDO:1010852) |
| post-treatment Lyme disease syndrome (MONDO:0700280) |
| oculocutaneous albinism, SLC45A2-related, dog (MONDO:1011039) |
| LZTFL1-related ciliopathy (MONDO:1040046) |
| immunodeficiency 125 (MONDO:0975749) |
| glycogen storage disease, PFKM-related, dog (MONDO:1010699) |
| glycogen storage disease II, sheep (MONDO:1010853) |
| focal nonepidermolytic palmoplantar keratoderma, KRT16-related, dog (MONDO:1010790) |
| TTLL5-related retinopathy (MONDO:1040038) |
| achromatopsia, PDE6C-related, Rhesus monkey (MONDO:1011281) |
| oculocutaneous albinism, SLC45A2-related, western gorilla (MONDO:1011038) |
| otofacial neurodevelopmental syndrome (MONDO:0975705) |
| anti-TIF1 dermatomyositis (MONDO:1010087) |
| glycogen storage disease, GAA-related, dog (MONDO:1010850) |
| leukocyte adhesion deficiency, ITGB2-related, cattle (MONDO:1010729) |
| Gaucher disease, GBA1-related, sheep (MONDO:1010904) |
| GM2 gangliosidosis, HEXB-related, domestic cat (MONDO:1010884) |
| neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (MONDO:0975745) |
| neuronal ceroid lipofuscinosis, CTSD-related, sheep (MONDO:1010893) |
| neuronal ceroid lipofuscinosis, TPP1-related, dog (MONDO:1010885) |
| BBS12-related ciliopathy (MONDO:1040045) |
| progressive retinal atrophy, BBS4-related, dog (MONDO:1011277) |
| clinically amyopathic dermatomyositis (MONDO:1010096) |
| anti-Mi2 dermatomyositis (MONDO:1010065) |
| neuronal ceroid lipofuscinosis, CTSD-related, dog (MONDO:1010892) |
| oculocutaneous albinism, SLC45A2-related, cattle (MONDO:1011040) |
| glaucoma, LTBP2-related, domestic cat (MONDO:1011275) |
| DHDDS-CDG (MONDO:1040054) |
| GM2 gangliosidosis, GM2A-related, domestic cat (MONDO:1010878) |
| mucopolysaccharidosis, SGSH-related, dog (MONDO:1010876) |
| GM1 gangliosidosis GLB1-related, sheep (MONDO:1010848) |
| BBS1-related ciliopathy (MONDO:1040043) |
| microvenular haemangioma (MONDO:0975758) |
| paroxysmal atrial fibrillation (MONDO:1030011) |
| POLR3B-related disorder (MONDO:0700277) |
| neuronal ceroid lipofuscinosis, MFSD8-related, domestic cat (MONDO:1010901) |
| PROM1-related dominant retinopathy (MONDO:1040053) |
| PDE6G-related retinopathy (MONDO:1040034) |
| cone-rod dystrophy, ADAM9-related, dog (MONDO:1011264) |
| POLR3A-related disorder (MONDO:0700276) |
| papillary hemangioma (MONDO:0975753) |
| immunodeficiency 126, susceptibility to (MONDO:0975761) |
| Niemann-Pick disease, NPC2-related, domestic cat (MONDO:1010902) |
| oculocutaneous albinism, SLC45A2-related, Japanese medaka (MONDO:1011037) |
| intrathyroid thymic carcinoma (MONDO:0971033) |
| PROM1-related retinopathy (MONDO:1040056) |
| precerebral artery stenosis (MONDO:1030010) |
| cone-rod dystrophy, IQCB1-related, dog (MONDO:1011268) |
| MYH10-related neurodevelopmental disorder with congenital anomalies (MONDO:0700281) |
| retinitis pigmentosa, RP1-related, cattle (MONDO:1011276) |
| neurofibromatosis, NF1-related, pig (MONDO:1010959) |
| Niemann-Pick disease, type C, dog (MONDO:1010873) |
| bladder fermentation syndrome (MONDO:0971032) |
| mucopolysaccharidosis, ARSB-related, dog (MONDO:1010869) |
| BBS4-related ciliopathy (MONDO:1040044) |
| glycogen storage disease, GAA-related, domestic cat (MONDO:1010851) |
| primary hyperoxaluria, AGXT-related, sheep (MONDO:1011101) |
| cone-rod dystrophy, PDE6B-related dog (MONDO:1011266) |
| eccrine angiomatous hamartoma (MONDO:0975755) |
| mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal (MONDO:1012581) |
| syndromic retinal atrophy, BBS2-related, dog (MONDO:1011285) |
| achromatopsia, CNGA3-related, dog (MONDO:1011260) |
| syndromic retinal atrophy, BBS7-related, Rhesus monkey (MONDO:1011283) |
| achromatopsia, non-human animal (MONDO:1012578) |
| glycogen storage disease, G6PC1-related, dog (MONDO:1010698) |
| BBS5-related ciliopathy (MONDO:1040047) |
| sphingomyelinase deficiency, cattle (MONDO:1010898) |
| Stargardt disease, ABCA4-related, dog (MONDO:1011282) |
| congenital muscular dystonia, ATP2A1-related, cattle (MONDO:1010926) |
| TTC8-related ciliopathy (MONDO:1040049) |
| POLR1C-related disorder (MONDO:0700278) |
| Niemann-Pick disease, NPC1-related, cattle (MONDO:1010875) |
| acquired elastotic haemangioma (MONDO:0975759) |
| cone-rod dystrophy, IQCB1-related, black-footed cat (MONDO:1011267) |
| cone-rod dystrophy, non-human animal (MONDO:1012582) |
| anti-SAE dermatomyositis (MONDO:1010088) |
| achromatopsia, CNGA3-related, sheep (MONDO:1011261) |
| GM1 gangliosidosis, cattle (MONDO:1010847) |
| glycogen storage disease, PYGM-related, sheep (MONDO:1010704) |
| mucopolysaccharidosis, GUSB-related, domestic cat (MONDO:1010872) |
| tyrosinemia type 1, FAH-related, rabbit (MONDO:1010721) |
| mucopolysaccharidosis, GNS-related, goat (MONDO:1010868) |
| polycystic kidney disease, PKD2-related, domestic cat (MONDO:1011105) |
| neuronal ceroid lipofuscinosis, CLN5-related, cattle (MONDO:1010888) |
| IMPG1-related dominant retinopathy (MONDO:1040036) |
| littoral cell hemangioma of the spleen (MONDO:0975752) |
| neuronal ceroid lipofuscinosis, CLN6-related, dog (MONDO:1010879) |
| brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation (MONDO:0975751) |
| PROM1-related recessive retinopathy (MONDO:1040052) |
| leukocyte adhesion deficiency, non-human animal (MONDO:1012580) |
| neuronal ceroid lipofuscinosis, TPP1-related, pig (MONDO:1010886) |
| neuronal ceroid lipofuscinosis, CLN5-related, sheep (MONDO:1010889) |
| anastomosing haemangioma (MONDO:0975757) |
| mitral valve insufficiency (MONDO:1030008) |
| Mycoplasmoides infection (MONDO:1030003) |
| GM1 gangliosi... |
v2024-09-03
New terms: 120
| Term |
|---|
| Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, dog (MONDO:1010746) |
| multiple evanescent white dot syndrome (MONDO:0971128) |
| autosomal dominant dopa-responsive dystonia (MONDO:0971063) |
| diffuse unilateral subacute neuroretinitis (MONDO:0971127) |
| hereditary sensory and autonomic neuropathy, SCN9A-related, dog (MONDO:1011032) |
| Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, sheep (MONDO:1010749) |
| early onset cataract HSF4-related, dog (MONDO:1011269) |
| X-linked severe combined immunodeficiency disease, IL2RG-related, pig (MONDO:1010732) |
| Ehlers-Danlos syndrome, kyphoscoliotic type, PLOD1-related, horse (MONDO:1010788) |
| chondrodysplasia FGFR3-related, cattle (MONDO:1011199) |
| colorectal cancer, MLH1-related, Rhesus monkey (MONDO:1010957) |
| methemoglobinemia, CYB5R3-related, dog (MONDO:1010670) |
| isolated retinal racemose hemangioma (MONDO:0971123) |
| progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN (MONDO:0971138) |
| pilocytic astrocytoma with histological features of anaplasia (MONDO:0971118) |
| bilateral diffuse uveal melanocytic proliferation disease (MONDO:0971131) |
| PRC-2 complex-related overgrowth spectrum (MONDO:0971047) |
| isolated segmental infantile hemangioma (MONDO:0971133) |
| Ehlers-Danlos syndrome, classic type, COL5A2-related, cattle (MONDO:1010798) |
| congenital hypothyroidism, DUOX2-related, pig (MONDO:1010617) |
| hypertrophic cardiomyopathy, SGCD-related, golden hamster (MONDO:1010511) |
| episodic memory defect leukoencephalopathy (MONDO:0971077) |
| muscular dystrophy, limb-girdle, autosomal recessive 29 (MONDO:0971171) |
| Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, domestic cat (MONDO:1010747) |
| spinocerebellar ataxia, CAPN1-related, dog (MONDO:1011021) |
| bleeding disorder P2RY12-related, dog (MONDO:1010667) |
| hypermobility spectrum disorder (MONDO:1040027) |
| megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency (MONDO:0971066) |
| oculocutaneous albinism, OCA2-related, Mexican tetra (MONDO:1011041) |
| Phelan-McDermid syndrome due to 22q13.3 deletion (MONDO:0971068) |
| neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (MONDO:0971172) |
| acute megakaryoblastic leukemia in adult (MONDO:0971091) |
| X-linked severe combined immunodeficiency disease, IL2RG-related, golden hamster (MONDO:1010730) |
| X-linked hypohidrotic ectodermal dysplasia, EDA-related, cattle (MONDO:1010755) |
| nemaline myopathy, NEB-related, dog (MONDO:1010935) |
| osteogenesis imperfecta SERPINH1-related, dog (MONDO:1011196) |
| well-differentiated papillary mesothelial tumour of the pleura (MONDO:0971140) |
| borderline vascular tumor (MONDO:0971116) |
| thrombopathia, RASGRP2-related, cattle (MONDO:1010674) |
| intraoral basal cell carcinoma (MONDO:0971111) |
| congenital increased muscular tonus, MYBPC1-related, cattle (MONDO:1010933) |
| torpedo maculopathy (MONDO:0971125) |
| peritoneal mesothelioma in situ (MONDO:0971145) |
| X-linked severe combined immunodeficiency disease, IL2RG-related, dog (MONDO:1010731) |
| thrombopathia, RASGRP2-related, dog (MONDO:1010673) |
| prostate cancer, hereditary, X-linked 3 (MONDO:0971170) |
| congenital dyshormonogenic hypothyroidism with goiter, SLC5A5-related, dog (MONDO:1010616) |
| severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome (MONDO:0971137) |
| 6q25.1 microdeletion syndrome (MONDO:0971095) |
| Ehlers-Danlos syndrome, classic type, COL5A1-related, dog (MONDO:1010793) |
| developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation (MONDO:0971062) |
| hypogonadotropic hypogonadism, KISS1-related, pig (MONDO:1011129) |
| multiple mitochondrial dysfunctions syndrome 9b (MONDO:0971174) |
| common arterial trunk with aortic dominance (MONDO:0971107) |
| oculocutaneous albinism, OCA2-related, dog (MONDO:1011042) |
| immunodeficiency IL17RA-related, cattle (MONDO:1010742) |
| pleural mesothelioma in situ (MONDO:0971143) |
| ocular surface squamous neoplasia (MONDO:0971056) |
| cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (MONDO:0971094) |
| immunodeficiency 122 (MONDO:0971151) |
| neurocristopathy, CHD7-related, cattle (MONDO:1012577) |
| nephropathy, COL4A4-related, dog (MONDO:1011107) |
| Ehlers-Danlos syndrome, classic type, COL5A2-related, dog (MONDO:1010797) |
| sycosis barbae (MONDO:1050000) |
| Happle-Tinschert syndrome (MONDO:1030006) |
| perifoveal exudative vascular anomalous complex (MONDO:0971124) |
| common arterial trunk with pulmonary dominance and interrupted aortic arch (MONDO:0971108) |
| choroidal osteoma (MONDO:0971130) |
| methemoglobinemia, CYB5R3-related, domestic cat (MONDO:1010671) |
| sensory neuropathy, RETREG1-related, dog (MONDO:1011027) |
| progressive retinal atrophy, TTC8-related, dog (MONDO:1011273) |
| Grisel syndrome (MONDO:0971080) |
| X-linked disease, non-human animal (MONDO:1012575) |
| severe combined immunodeficiency disease, RAG1-related, dog (MONDO:1010738) |
| coat color dilution, MLPH-related, dog (MONDO:1011033) |
| ichthyosis TGM1-related, dog (MONDO:1010756) |
| autoinflammation with arthritis and vasculitis (MONDO:0971173) |
| muscular hypertrophy, MSTN-related, cattle (MONDO:1010914) |
| Phelan-McDermid syndrome due to SHANK3 mutation (MONDO:0971069) |
| benign vascular tumor (MONDO:0971115) |
| X-linked hypohidrotic ectodermal dysplasia, EDA-related, dog (MONDO:1010754) |
| prostate cancer, hereditary (MONDO:0700275) |
| neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (MONDO:0971150) |
| isolated angioid streaks (MONDO:0971126) |
| polycystic kidney disease 8 (MONDO:0971178) |
| single isolated optic neuritis (MONDO:0971049) |
| stellate multiform amelanotic choroidopathy (MONDO:0971129) |
| verruga peruana (MONDO:0971058) |
| primary ciliary dyskinesia CCDC39-related, dog (MONDO:1011137) |
| hyperphagia leading to hepatic steatosis, pig (MONDO:1010406) |
| hypertrophic cardiomyopathy, SGCD-related, pig (MONDO:1010512) |
| arterial tortuosity-bone fragility syndrome (MONDO:0971179) |
| orofacial clefting-cardiac anomalies-facial dysmorphism syndrome (MONDO:0971064) |
| Nicolau syndrome (MONDO:0971103) |
| localized pleural mesothelioma (MONDO:0971141) |
| maple syrup urine disease, BCKDHA-related, cattle (MONDO:1010700) |
| mosaic SMO syndrome (MONDO:1030005) |
| retinopathy, RDH5-related, domestic cat (MONDO:1011284) |
| hypohidrotic ectodermal dysplasia, non-human animal (MONDO:1012576) |
| ichthyosis SLC27A4-related, dog (MONDO:1010786) |
| dilated cardiomyopathy PLN-related, dog (MONDO:1010510) |
| Ehlers-Danlos syndrome, classic type, COL5A1-related, domestic cat (MONDO:1010794) |
| MGP-related spondyloepiphyseal dysplasia (MONDO:0971093) |
| hearing loss, autosomal recessive 125 (MONDO:0971152) |
| soft and hard cleft palate (MONDO:0971092) |
| diffused pleural mesothelioma (MONDO:0971142) |
| immunodeficiency 123 with HPV-related verrucosis (MONDO:0971177) |
| ichthyosis NIPAL4-related, dog (MONDO:1010787) |
| ovarian dysgenesis 11 (MONDO:0971176) |
| Ehlers-Danlos syndrome, classic-like, TNXB-related, dog (MONDO:1010795) |
| proteoglycan-related bone disorder (MONDO:0971119) |
| Ehlers-Danlos syndrome, dermatosparaxis type, ADAMTS2-related, cattle (MONDO:1010748) |
| neonatal renal venous thrombosis (MONDO:0971105) |
| relapsing isolated optic neuritis (MONDO:0971050) |
| chondrodysplasia FGFR3-related, sheep (MONDO:1011200) |
| spastic paraplegia 30b, autosomal recessive (MONDO:0971149) |
| severe combined immunodeficiency disease, pig (MONDO:1010739) |
| cardiomyopathy, dilated, 2K (MONDO:0971175) |
| oculocutaneous albinism, non-human animal (MONDO:1012579) |
| hepatic cutaneous porphyria (MONDO:0971154) |
Terms renamed: 13
| ID | Old Label | New Label |
|---|---|---|
| MONDO:0018603 | interstitial lung disease due to SP-C deficiency | SFTPC- related interstitial lung disease |
| MONDO:0035547 | predisposition to severe viral infection due to IRF7 deficiency | obsolete predisposition to severe viral infection due to IRF7 deficiency |
| MONDO:0004587 | hereditary night blindness | obsolete hereditary night blindness |
| MONDO:0957825 | deafness, autosomal recessive 121 | hearing loss, autosomal recessive 121 |
| MONDO:0017297 | chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref="Orphanet:284448"} | chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids |
| MONDO:0022900 | athyreotic congenital hypothyroidism | obsolete athyreotic congenital hypothyroidism |
| MONDO:0020716 | familial thyroid dyshormonogenesis 1 | thyroid dyshormonogenesis 1 |
| MONDO:0009917 | autosomal recessive pseudohypoaldosteronism type 1 | pseudohypoaldosteronism, type IB1, autosomal recessive |
| MONDO:0000424 | inborn vitamin B12 deficiency | obsolete inborn vitamin B12 deficiency |
| MONDO:0015068 | neuroendocrine tumor of rectum, well differentiated, low or intermediate grade | rectal neuroendocrine tumor |
| MONDO:0957319 | pseudohypoaldosteronism, type I | obsolete pseudohypoaldosteronism, type I |
| MONDO:0011292 | dermatitis, atopic | obsolete dermatitis, atopic |
| MONDO:0018774 | erythrokeratodermia-cardiomyopathy syndrome | obsolete erythrokeratodermia-cardiomyopathy syndrome |
Text definitions added: 67
| Term | New Text Definition |
|---|---|
| patent ductus venosus (MONDO:0011089) | Patent ductus venosus (PDV) ... |
v2024-08-06
Content changes
New terms added: 600
Many of these terms are non-human animal diseases
| Term |
|---|
| leukoencephalomyelopathy, dog (MONDO:1012450) |
| spinal dysraphism, dog (MONDO:1012259) |
| trapped neutrophil syndrome, dog (MONDO:1012383) |
| idiopathic hepatic fibrosis, dog (MONDO:1012102) |
| lower motor neuron disease, sheep (MONDO:1012170) |
| IRF6-related condition (MONDO:1040010) |
| hypoadrenocorticism, goat (MONDO:1012112) |
| congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, dog (MONDO:1012432) |
| autosomal dwarfism, chicken (MONDO:1012065) |
| congenital myopathy with fiber-type disproportion, dog (MONDO:1012454) |
| primary hypothyroidism, domestic cat (MONDO:1012122) |
| platelet function defect, cattle (MONDO:1012216) |
| MTOR-related overgrowth spectrum (MONDO:0100572) |
| hydrallantois, water buffalo (MONDO:1012501) |
| nephropathy, dog (MONDO:1012186) |
| vertebral artery dissection (MONDO:1040011) |
| malignant hyperthermia, turkey (MONDO:1012144) |
| comedo syndrome, dog (MONDO:1012345) |
| acral mutilation syndrome, dog (MONDO:1012407) |
| photoreceptor dysplasia, dog (MONDO:1012362) |
| megaesophagus, horse (MONDO:1012156) |
| megaesophagus, domestic ferret (MONDO:1012154) |
| inborn error of hepatic metabolism, dog (MONDO:1012136) |
| polyarthritis, domestic cat (MONDO:1012218) |
| ocular melanosis, dog (MONDO:1012455) |
| rod-cone dysplasia, domestic cat (MONDO:1012247) |
| pyometra, dog (MONDO:1012542) |
| cerebellar cortical atrophy, cattle (MONDO:1012047) |
| complement component 4 deficiency, domestic guinea pig (MONDO:1012428) |
| laminitis, horse (MONDO:1012330) |
| renal cysts, pig (MONDO:1012342) |
| osteochondromatosis, pig (MONDO:1012563) |
| ACTH-independent adrenal Cushing syndrome, dog (MONDO:1012488) |
| malignant hyperthermia, dog (MONDO:1012145) |
| progressive cerebellar abiotrophy, pig (MONDO:1012224) |
| pulmonary adenomatosis, dog (MONDO:1012231) |
| cardiomyopathy and woolly haircoat syndrome, cattle (MONDO:1012035) |
| internal hydrocephalus, cattle (MONDO:1012106) |
| renal nephropathy, dog (MONDO:1012238) |
| bleeding disorder, dog (MONDO:1012027) |
| occipital dysplasia, dog (MONDO:1012194) |
| congenital mast cell tumor, cattle (MONDO:1012568) |
| congenital neuromuscular disease, sheep (MONDO:1012189) |
| calvarial hyperostotic syndrome, dog (MONDO:1012532) |
| laminitis, cattle (MONDO:1012331) |
| immunoglobulin A deficiency, dog (MONDO:1012130) |
| myoclonus epilepsy of Lafora, dog (MONDO:1012178) |
| atopy, domestic cat (MONDO:1012018) |
| sebaceous gland dysplasia, domestic cat (MONDO:1012438) |
| perosomus elumbis, dog (MONDO:1012207) |
| upper airway syndrome, dog (MONDO:1012478) |
| cancer, dog (MONDO:1012570) |
| cytochrome B-related exercise intolerance, sheep (MONDO:1012546) |
| idiopathic congenital chondrodystrophy, cattle (MONDO:1012465) |
| linear IgA disease, dog (MONDO:1012368) |
| vitamin D-deficiency rickets, non-type I, non-type II, domestic cat (MONDO:1012423) |
| bleeding disorder, domestic cat (MONDO:1012028) |
| EN1-related dorsoventral syndrome (MONDO:1040032) |
| retained placenta, cattle (MONDO:1012553) |
| congenital lethal spasms, cattle (MONDO:1012251) |
| tetragametic chimerism, water buffalo (MONDO:1012082) |
| alloimmune hemolytic anemia of the newborn, domestic cat (MONDO:1012006) |
| mitochondrial fission encephalopathy, dog (MONDO:1012561) |
| progressive ataxia, cattle (MONDO:1012289) |
| persistent right aortic arch with subclavian artery and ligamentum arteriosum, dog (MONDO:1012417) |
| retinal dysplasia and internal hydrocephalus, cattle (MONDO:1012429) |
| Laron dwarfism, cattle (MONDO:1012365) |
| compulsive disorder, dog (MONDO:1012411) |
| hemangiosarcoma, orange-winged Amazon parrot (MONDO:1012458) |
| laryngeal paralysis, cattle (MONDO:1012324) |
| primary open angle glaucoma, dog (MONDO:1012498) |
| reduced glutathione deficiency due to amino-acid transport defect, sheep (MONDO:1012336) |
| familial thoracic aortic aneurysm, dog (MONDO:1012381) |
| dysphagia-associated muscular dystrophy, dog (MONDO:1012173) |
| osteodystrophy, cattle (MONDO:1012204) |
| reduced glutathione deficiency, dog (MONDO:1012337) |
| PIK3R2-related overgrowth spectrum (MONDO:1040004) |
| immune-mediated myositis, horse (MONDO:1012518) |
| shivers, horse (MONDO:1012172) |
| gluten-sensitive enteropathy, dog (MONDO:1012343) |
| self-mutilation syndrome, horse (MONDO:1012308) |
| arthritis deformans, pig (MONDO:1012013) |
| primary ciliary dyskinesia, pig (MONDO:1012140) |
| tremor, pig (MONDO:1012281) |
| hemangiosarcoma, sheep (MONDO:1012464) |
| craniomandibular osteopathy, dog (MONDO:1012054) |
| renal amyloidosis, cattle (MONDO:1012011) |
| polled and multisystemic syndrome, cattle (MONDO:1012444) |
| immunoglobulin G2 deficiency, cattle (MONDO:1012134) |
| muscular dystrophy-dystroglycanopathy (limb-girdle), domestic cat (MONDO:1012427) |
| atopy, dog (MONDO:1012017) |
| congenital copper deficiency, goat (MONDO:1012053) |
| malignant melanoma, lion (MONDO:1012443) |
| tapetal degeneration, dog (MONDO:1012263) |
| ocular-skeletal dysplasia, dog (MONDO:1012063) |
| warts between hooves, cattle (MONDO:1012286) |
| pentalogy of Fallot, dog (MONDO:1012469) |
| congenital muscular dystrophy without intellectual disability (MONDO:1040033) |
| dermal allergy, horse (MONDO:1012060) |
| nephropathy, pig (MONDO:1012187) |
| thrombopathia, pig (MONDO:1012274) |
| turning calves syndrome, cattle (MONDO:1012522) |
| hyperkinesis, dog (MONDO:1012107) |
| digital dermatitis, cattle (MONDO:1012531) |
| tremor, domestic cat (MONDO:1012280) |
| reduced glutathione deficiency, sheep (MONDO:1012339) |
| premature senesence, rabbit (MONDO:1012326) |
| idiopathic hepatic fibrosis, cattle (MONDO:1012103) |
| osteochondroma causing progressive posterior paresis, dog (MONDO:1012201) |
| bone spavin, red deer (MONDO:1012335) |
| dystrophic epidermolysis bullosa, dog (MONDO:1012068) |
| neuronal vacuolar disorder, dog (MONDO:1012360) |
| spastic paresis, pig (MONDO:1012252) |
| progressive rod-cone degeneration, dog (MONDO:1012359) |
| sebaceous adenitis, dog (MONDO:1012415) |
| polyneuropathy, dog (MONDO:1012354) |
| neurological syndrome, dog (MONDO:1012191) |
| calvarial hyperostotic syndrome, lion (MONDO:1012533) |
| cavitating leukodystrophy, dog (MONDO:1012530) |
| facial dysplasia syndrome, cattle (MONDO:1012510) |
| internal hydrocephalus, dog (MONDO:1012105) |
| spina bifida with myelomeningocele, cattle (MONDO:1012256) |
| Laron dwarfism, pig (MONDO:1012364) |
| androgen insensitivity syndrome, pig (MONDO:1012267) |
| peripheral axonopathy, domestic cat (MONDO:1012024) |
| exfoliative cutaneous lupus erythematosus, dog (MONDO:1012422) |
| hypoadrenocorticism, domestic cat (MONDO:1012110) |
| Kurosawa and Kusanagi hypercholesterolaemia, rabbit (MONDO:1012416) |
| hypoadrenocorticism, horse (MONDO:1012111) |
| hemangiosarcoma, cattle (MONDO:1012463) |
| gyrate atrophy of choroid and retina, domestic cat (MONDO:1012447) |
| hypotrichosis with short life expectancy, domestic cat (MONDO:1012489) |
| tibial dyschondroplasia, chicken (MONDO:1012275) |
| cerebellar abiotrophy, domestic cat (MONDO:1012039) |
| congenital hypomyelinogenesis, dog (MONDO:1012114) |
| cervical vertebral compressive myelopathy, dog (MONDO:1012479) |
| persistent truncus arteriosus with ventricular septal defect and patent foramen ovale, cattle (MONDO:1012327) |
| myoclonus epilepsy of Lafora, Eurasian elk (MONDO:1012180) |
| neuroaxonal dystrophy with cerebellar abiotrophy, domestic cat (MONDO:1012421) |
| alpha fucosidosis, dog (MONDO:1012087) |
| lethal arthrogryposis syndrome, cattle (MONDO:1012491) |
| displaced abomasum, sheep (MONDO:1012300) |
| primary hypoadrenocorticism, dog (MONDO:1012113) |
| androgen insensitivity syndrome, horse (MONDO:1012266) |
| follicular dysplasia and interface dermatitis, dog (MONDO:1012375) |
| ventricular arrhythmias and sudden death, dog (MONDO:1012285) |
| degenerative myeloencephalopathy, horse (MONDO:1012309) |
| laryngeal paralysis, dog (MONDO:1012322) |
| dystrophic epidermolysis bullosa, goat (MONDO:1012071) |
| renal insufficiency, dog (MONDO:1012237) |
| hemolytic uremic syndrome, dog (MONDO:1012100) |
| subacute necrotising encephalopathy of Leigh, dog (MONDO:1012292) |
| invasive transitional cell carcinoma, dog (MONDO:1012404) |
| megaesophagus, cattle (MONDO:1012158) |
| tetragametic chimerism, bighorn sheep (MONDO:1012081) |
| congenital hydranencephaly and cerebellar hypoplasia, cattle (MONDO:1012435) |
| immunodeficiency disease, domestic cat (MONDO:1012126) |
| neuronal abiotrophy, dog (MONDO:1012310) |
| congenital stationary night blindness, LRIT3-related, dog (MONDO:1011262) |
| spontaneous cardiomyopathy, turkey (MONDO:1012036) |
| hemolytic uremic syndrome, cattle (MONDO:1012101) |
| bleeding disorder, pig (MONDO:1012029) |
| pentalogy of Fallot, horse (MONDO:1012470) |
| multiple exostoses, dog (MONDO:1012073) |
| fibrodysplasia ossificans, dog (MONDO:1012078) |
| mitral valve dysplasia, horse (MONDO:1012557) |
| chronic myelogenous leukemia, dog (MONDO:1012405) |
| androgen insensitivity syndrome, cattle (MONDO:1012268) |
| ocular squamous cell carcinoma, cattle (MONDO:1012197) |
| congential hepatic fibrosis, dog (MONDO:1012543) |
| hemangiosarcoma, African hunting dog (MONDO:1012459) |
| ocular squamous cell carcinoma, goat (MONDO:1012198) |
| primary autoimmune hemolytic anemia, dog (MONDO:1012098) |
| methicillin-susceptible staphylococcus aureus infectious disease (MONDO:1040020) |
| displaced abomasum, cattle (MONDO:1012299) |
| displaced abomasum, water buffalo (MONDO:1012298) |
| cancer, pig (MONDO:1012572) |
| axonopathy, cattle (MONDO:1012295) |
| verrucous epidermal... |
v2024-07-02
Overview:
- Number of new terms: 641
- Number of changed labels: 2
- Number of changed definitions: 3
- Number obsoleted terms: 5
- Number of new obsoletion candidates: 352
- Number of terms who were previously candidate for obsoletion and are now not anymore: 0
New terms
| Mondo ID | Label | Definition |
|---|---|---|
| MONDO:0968990 | genetic central precocious puberty in male | |
| MONDO:0968991 | non-genetic central precocious puberty in male | |
| MONDO:0970943 | spermatogenic failure, x-linked, 8 | |
| MONDO:0970944 | Leigh syndrome, mitochondrial | |
| MONDO:0970945 | developmental and epileptic encephalopathy 116 | |
| MONDO:0970950 | Rothmund-Thomson syndrome, type 4 | |
| MONDO:0970951 | El Hayek-Chahrour neurodevelopmental disorder | |
| MONDO:0970952 | spermatogenic failure 91 | |
| MONDO:0970957 | terminal extramedullary conus spinal cord lipoma | A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus. |
| MONDO:0970958 | transitional extramedullary conus spinal cord lipoma | A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-\transitional" between posterior and terminal conus region spinal cord lipoma." |
| MONDO:0970959 | posterior extramedullary conus spinal cord lipoma | A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated. |
| MONDO:0970960 | lipomatous non-saccular limited dorsal myeloschisis | A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers. |
| MONDO:0970961 | fibroneural non-saccular limited dorsal myeloschisis | A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues. |
| MONDO:0970962 | terminal myelocystocele | A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). |
| MONDO:0970963 | saccular limited dorsal myeloschisis | A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. |
| MONDO:0970964 | myelic limited dorsal malformation | A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. |
| MONDO:0970993 | immunodeficiency 119 | |
| MONDO:0970994 | immunodeficiency 120 | |
| MONDO:0970995 | premature ovarian failure 24 | |
| MONDO:0970998 | auroneurodental syndrome | |
| MONDO:0970999 | spermatogenic failure 92 | |
| MONDO:0971000 | spermatogenic failure 93 | |
| MONDO:0971001 | immunodeficiency 121 with autoinflammation | |
| MONDO:0971002 | spermatogenic failure 94 | |
| MONDO:0971004 | amyloidosis, hereditary systemic 1 | |
| MONDO:0971005 | MHC class II deficiency 1 | |
| MONDO:0971006 | MHC class I deficiency 1 | |
| MONDO:0971007 | neuroocular syndrome 1 | |
| MONDO:0971008 | amyloidosis, hereditary systemic 3 | |
| MONDO:0971009 | amyloidosis, hereditary systemic 5 | |
| MONDO:0971010 | amyloidosis, hereditary systemic 6 | |
| MONDO:0971011 | MHC class I deficiency 2 | |
| MONDO:0971012 | MHC class I deficiency 3 | |
| MONDO:0971013 | MHC class II deficiency 2 | |
| MONDO:0971014 | MHC class II deficiency 3 | |
| MONDO:0971015 | MHC class II deficiency 4 | |
| MONDO:0971016 | MHC class II deficiency 5 | |
| MONDO:1011400 | pituitary-dependent hyperadrenocorticism, non-human animal | Pituitary-dependent hyperadrenocorticism that occurs in non-human animals. |
| MONDO:1011401 | type 1 diabetes mellitus, non-human animal | Type 1 diabetes mellitus that occurs in non-human animals. |
| MONDO:1011402 | type 2 diabetes mellitus, non-human animal | Type 2 diabetes mellitus that occurs in non-human animals. |
| MONDO:1011403 | hyperadrenocorticism, non-human animal | Hyperadrenocorticism that occurs in non-human animals. |
| MONDO:1011404 | metabolic syndrome, non-human animal | Metabolic syndrome that occurs in non-human animals. |
| MONDO:1011405 | Diamond-Blackfan anemia, non-human animal | Diamond-Blackfan anemia that occurs in non-human animals. |
| MONDO:1011406 | autoimmune hemolytic anemia, non-human animal | Autoimmune hemolytic anemia that occurs in non-human animals. |
| MONDO:1011407 | nonspherocytic hemolytic anemia, non-human animal | Nonspherocytic hemolytic anemia that occurs in non-human animals. |
| MONDO:1011408 | hemophilia A, non-human animal | Hemophilia A that occurs in non-human animals. |
| MONDO:1011409 | portosystemic shunt, non-human animal | Portosystemic shunt that occurs in non-human animals. |
| MONDO:1011410 | vitamin-K-dependent blood coagulation factors deficiency, non-human animal | Vitamin-K-Dependent blood coagulation factors deficiency that occurs in non-human animals. |
| MONDO:1011411 | Von Willebrand disease, non-human animal | Von Willebrand disease that occurs in non-human animals. |
| MONDO:1011412 | methemoglobinemia, non-human animal | Methemoglobinemia that occurs in non-human animals. |
| MONDO:1011413 | paroxysmal nocturnal hemoglobinuria, non-human animal | Paroxysmal nocturnal hemoglobinuria that occurs in non-human animals. |
| MONDO:1011414 | vestibular disease, non-human animal | Vestibular disease that occurs in non-human animals. |
| MONDO:1011415 | amyloidosis, non-human animal | Amyloidosis that occurs in non-human animals. |
| MONDO:1011416 | calcinosis circumscripta, non-human animal | Calcinosis circumscripta that occurs in non-human animals. |
| MONDO:1011417 | hypertriglyceridemia, non-human animal | Hypertriglyceridemia that occurs in non-human animals. |
| MONDO:1011418 | porphyria, non-human animal | Porphyria that occurs in non-human animals. |
| MONDO:1011419 | glycogen storage disease, non-human animal | Glycogen storage disease that occurs in non-human animals. |
| MONDO:1011420 | hyperhomocysteinemia, non-human animal | Hyperhomocysteinemia that occurs in non-human animals. |
| MONDO:1011421 | complement component 3 deficiency, non-human animal | Complement component 3 deficiency that occurs in non-human animals. |
| MONDO:1011422 | severe combined immunodeficiency disease, non-human animal | Severe combined immunodeficiency disease that occurs in non-human animals. |
| MONDO:1011423 | Complement component 6 deficiency, non-human animal | Complement component 6 deficiency that occurs in non-human animals. |
| MONDO:1011424 | Complement component 2 deficiency, non-human animal | Complement component 2 deficiency that occurs in non-human animals. |
| MONDO:1011425 | Ehlers-Danlos syndrome, non-human animal | Ehlers-Danlos syndrome that occurs in non-human animals. |
| MONDO:1011426 | junctionalis epidermolysis bullosa , non-human animal | Junctionalis epidermolysis bullosa that occurs in non-human animals. |
| MONDO:1011427 | ichthyosis, non-human animal | Ichthyosis that occurs in non-human animals. |
| MONDO:1011428 | epidermolysis bullosa simplex, non-human animal | Epidermolysis bullosa simplex that occurs in non-human animals. |
| MONDO:1011429 | hepatic lipidosis, non-human animal | Hepatic lipidosis that occurs in non-human animals. |
| MONDO:1011430 | neuronal ceroid lipofuscinosis, non-human animal | Neuronal ceroid lipofuscinosis that occurs in non-human animals. |
| MONDO:1011431 | Gaucher disease, non-human animal | Gaucher disease that occurs in non-human animals. |
| MONDO:1011432 | beta-mannosidosis, non-human animal | Beta-mannosidosis that occurs in non-human animals. |
| MONDO:1011433 | hyperkalemic periodic paralysis, non-human animal | Hyperkalemic periodic paralysis that occurs in non-human animals. |
| MONDO:1011434 | hypokalaemic periodic paralysis, non-human animal | Hypokalaemic periodic paralysis that occurs in non-human animals. |
| MONDO:1011435 | Becker type muscular dystrophy, non-human animal | Becker type muscular dystrophy that occurs in non-human animals. |
| MONDO:1011436 | histiocytosis, non-human animal | Histiocytosis that occurs in non-human animals. |
| MONDO:1011437 | neurofibromatosis, non-human animal | Neurofibromatosis that occurs in non-human animals. |
| MONDO:1011438 | nephroma, non-human animal | Nephroma that occurs in non-human animals. |
| MONDO:1011439 | Wilms tumor, non-human animal | Wilms tumour that occurs in non-human animals. |
| MONDO:1011440 | gastrointestinal stromal tumour, non-human animal | Gastrointestinal stromal tumour that occurs in non-human animals. |
| MONDO:1011441 | mast cell tumor, non-human animal | Mast cell tumor that occurs in non-human animals. |
| MONDO:1011442 | enteropathy-associated T cell lymphoma, non-human animal | Enteropathy-associated T cell... |