Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Intellectual disability (HP:0001249)help
..Starting node
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Intellectual disability, profound (HP:0002187)help
Term ID: 2187
Name: Intellectual disability, profound
Synonym: IQ less than 20; Mental retardation, profound; Profound mental retardation
Definition: Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Comments:
Reference: HP:0002187
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIntellectual disability, borderline (HP:0006889) help
..expandIntellectual disability, mild (HP:0001256) help
..expandIntellectual disability, moderate (HP:0002342) help
..expandIntellectual disability, progressive (HP:0006887) help
..expandIntellectual disability, severe (HP:0010864) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002187HP:0002187Intellectual disability, profound0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0002187HP:0002187Intellectual disability, profound0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent116
HP:0002187HP:0002187Intellectual disability, profound0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0002187HP:0002187Intellectual disability, profound0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0002187HP:0002187Intellectual disability, profound0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0002187HP:0002187Intellectual disability, profound0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0002187HP:0002187Intellectual disability, profound0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002187HP:0002187Intellectual disability, profound0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0002187HP:0002187Intellectual disability, profound0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0002187HP:0002187Intellectual disability, profound0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0002187HP:0002187Intellectual disability, profound0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0002187HP:0002187Intellectual disability, profound0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0002187HP:0002187Intellectual disability, profound0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0002187HP:0002187Intellectual disability, profound0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0002187HP:0002187Intellectual disability, profound0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0002187HP:0002187Intellectual disability, profound0CLIC2 CL E G H11932063OMIM:300886MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS324
HP:0002187HP:0002187Intellectual disability, profound0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040282 - Frequent4
HP:0002187HP:0002187Intellectual disability, profound0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60.
HP:0002187HP:0002187Intellectual disability, profound0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0002187HP:0002187Intellectual disability, profound0DMXL2 CL E G H233122938OMIM:618663DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE813
HP:0002187HP:0002187Intellectual disability, profound0DPH5 CL E G H5161124270OMIM:620070
HP:0002187HP:0002187Intellectual disability, profound0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0002187HP:0002187Intellectual disability, profound0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002187HP:0002187Intellectual disability, profound0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0002187HP:0002187Intellectual disability, profound0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0002187HP:0002187Intellectual disability, profound0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0002187HP:0002187Intellectual disability, profound0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002187HP:0002187Intellectual disability, profound0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002187HP:0002187Intellectual disability, profound0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0002187HP:0002187Intellectual disability, profound0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0002187HP:0002187Intellectual disability, profound0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0002187HP:0002187Intellectual disability, profound0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0002187HP:0002187Intellectual disability, profound0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0002187HP:0002187Intellectual disability, profound0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0002187HP:0002187Intellectual disability, profound0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0002187HP:0002187Intellectual disability, profound0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0002187HP:0002187Intellectual disability, profound0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0002187HP:0002187Intellectual disability, profound0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0002187HP:0002187Intellectual disability, profound0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002187HP:0002187Intellectual disability, profound0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0002187HP:0002187Intellectual disability, profound0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent28
HP:0002187HP:0002187Intellectual disability, profound0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002187HP:0002187Intellectual disability, profound0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0002187HP:0002187Intellectual disability, profound0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0002187HP:0002187Intellectual disability, profound0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0002187HP:0002187Intellectual disability, profound0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002187HP:0002187Intellectual disability, profound0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002187HP:0002187Intellectual disability, profound0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002187HP:0002187Intellectual disability, profound0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040282 - Frequent1
HP:0002187HP:0002187Intellectual disability, profound0NAPB CL E G H6390815751OMIM:6200332
HP:0002187HP:0002187Intellectual disability, profound0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 4.96
HP:0002187HP:0002187Intellectual disability, profound0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002187HP:0002187Intellectual disability, profound0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0002187HP:0002187Intellectual disability, profound0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0002187HP:0002187Intellectual disability, profound0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10.201
HP:0002187HP:0002187Intellectual disability, profound0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002187HP:0002187Intellectual disability, profound0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0002187HP:0002187Intellectual disability, profound0PCDH12 CL E G H512948657OMIM:251280Microcephaly, seizures, spasticity, and brain calcifications.
HP:0002187HP:0002187Intellectual disability, profound0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0002187HP:0002187Intellectual disability, profound0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0002187HP:0002187Intellectual disability, profound0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0002187HP:0002187Intellectual disability, profound0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0002187HP:0002187Intellectual disability, profound0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002187HP:0002187Intellectual disability, profound0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0002187HP:0002187Intellectual disability, profound0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0002187HP:0002187Intellectual disability, profound0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0002187HP:0002187Intellectual disability, profound0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0002187HP:0002187Intellectual disability, profound0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0002187HP:0002187Intellectual disability, profound0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040281 - Very frequent49
HP:0002187HP:0002187Intellectual disability, profound0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0002187HP:0002187Intellectual disability, profound0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0002187HP:0002187Intellectual disability, profound0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0002187HP:0002187Intellectual disability, profound0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0002187HP:0002187Intellectual disability, profound0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent33
HP:0002187HP:0002187Intellectual disability, profound0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent34
HP:0002187HP:0002187Intellectual disability, profound0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent60
HP:0002187HP:0002187Intellectual disability, profound0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0002187HP:0002187Intellectual disability, profound0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0002187HP:0002187Intellectual disability, profound0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0002187HP:0002187Intellectual disability, profound0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent
HP:0002187HP:0002187Intellectual disability, profound0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent55
HP:0002187HP:0002187Intellectual disability, profound0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002187HP:0002187Intellectual disability, profound0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0002187HP:0002187Intellectual disability, profound0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002187HP:0002187Intellectual disability, profound0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0002187HP:0002187Intellectual disability, profound0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002187HP:0002187Intellectual disability, profound0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0002187HP:0002187Intellectual disability, profound0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0002187HP:0002187Intellectual disability, profound0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0002187HP:0002187Intellectual disability, profound0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040281 - Very frequent11
HP:0002187HP:0002187Intellectual disability, profound0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0002187HP:0002187Intellectual disability, profound0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0002187HP:0002187Intellectual disability, profound0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0002187HP:0002187Intellectual disability, profound0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0002187HP:0002187Intellectual disability, profound0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0002187HP:0002187Intellectual disability, profound0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002187HP:0002187Intellectual disability, profound0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0002187HP:0002187Intellectual disability, profound0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0002187HP:0002187Intellectual disability, profound0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0002187HP:0002187Intellectual disability, profound0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0002187HP:0002187Intellectual disability, profound0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0002187HP:0002187Intellectual disability, profound0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040281 - Very frequent56
HP:0002187HP:0002187Intellectual disability, profound0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0002187HP:0002187Intellectual disability, profound0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0002187HP:0002187Intellectual disability, profound0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002187HP:0002187Intellectual disability, profound0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002187HP:0002187Intellectual disability, profound0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0002187HP:0002187Intellectual disability, profound0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0002187HP:0002187Intellectual disability, profound0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E.26
HP:0002187HP:0002187Intellectual disability, profound0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0002187HP:0002187Intellectual disability, profound0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0002187HP:0002187Intellectual disability, profound0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0002187HP:0002187Intellectual disability, profound0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1


Genes (102) :ADAM22 ADAR AIMP2 AP1S2 ARV1 ASXL1 ASXL3 ATIC ATP6V0A2 ATP6V1A ATP6V1E1 BUB1B CCDC88A CDKL5 CLIC2 CNPY3 CRPPA DMXL2 DPH5 DPM3 DPYD ELOVL4 EMC1 ERCC6 EXOSC5 FAR1 FGFR3 FH FKRP FKTN GAD1 GRIN1 GUF1 HSPD1 IDS IER3IP1 IFIH1 KCNJ6 LARGE1 LONP1 LSM11 MECP2 MED23 NACC1 NAPB NDE1 NGLY1 NSF OCLN OFD1 P4HTM PAFAH1B1 PCDH12 PCDH19 PDHA1 PIGG PIGP PIGU PIK3R2 POMGNT1 POMT1 POMT2 PRPS1 PRUNE1 PUS3 RAB18 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF13 RNU7-1 SAMHD1 SCN1A SCN8A SEPSECS SETBP1 SETD1B SLC16A2 SLC1A2 SLC39A8 SLC9A6 SMS SPTAN1 ST3GAL3 STRA6 STXBP1 SYNJ1 TBC1D20 TBC1D2B TBCD TRAPPC4 TREX1 UBTF UGP2 UNC80 VARS1 VPS53 WARS2 WASHC4 WDR45B ZNHIT3

Diseases (98) :OMIM:617933 ORPHA:51 OMIM:618006 ORPHA:85329 OMIM:617020 OMIM:605039 ORPHA:97297 ORPHA:352577 OMIM:608688 ORPHA:357074 OMIM:257300 OMIM:617507 OMIM:300672 OMIM:300886 ORPHA:324410 OMIM:617929 OMIM:614643 OMIM:618663 OMIM:620070 ORPHA:263494 ORPHA:1675 OMIM:614457 ORPHA:480898 OMIM:214150 OMIM:619576 OMIM:616154 ORPHA:1860 OMIM:187600 OMIM:606812 OMIM:236670 OMIM:613153 OMIM:619124 ORPHA:208447 OMIM:617065 OMIM:612233 OMIM:309900 OMIM:614231 ORPHA:435628 OMIM:608840 ORPHA:79243 OMIM:312750 OMIM:614249 ORPHA:500545 OMIM:620033 OMIM:614019 ORPHA:404454 OMIM:619340 OMIM:251290 OMIM:300804 OMIM:618493 ORPHA:95232 OMIM:251280 ORPHA:101039 OMIM:616917 OMIM:617599 OMIM:618590 OMIM:603387 OMIM:253280 OMIM:613150 ORPHA:423479 OMIM:617481 OMIM:617051 ORPHA:488627 OMIM:614222 OMIM:300953 OMIM:618379 ORPHA:544503 OMIM:619317 OMIM:614558 OMIM:613811 ORPHA:436151 OMIM:619000 ORPHA:59 OMIM:617105 OMIM:616721 ORPHA:468699 ORPHA:85278 ORPHA:3063 OMIM:613477 OMIM:615006 OMIM:601186 OMIM:612164 OMIM:617389 OMIM:615663 ORPHA:397973 ORPHA:496641 OMIM:618741 OMIM:225750 ORPHA:500180 OMIM:617672 OMIM:618744 OMIM:616801 OMIM:617802 OMIM:615851 ORPHA:572798 OMIM:615817 OMIM:617977 OMIM:260565
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.