Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the palpebral fissures (HP:0008050)help
Parent Node:
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Abnormal size of the palpebral fissures (HP:0200007)help
..Starting node
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Short palpebral fissure (HP:0012745)help
Term ID: 12745
Name: Short palpebral fissure
Synonym: Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures
Definition: Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Comments:
Reference: HP:0012745
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBlepharophimosis (HP:0000581) help
..expandLong palpebral fissure (HP:0000637) help
..expandNarrow palpebral fissure (HP:0045025) 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:0012745HP:0012745Short palpebral fissure0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0012745HP:0012745Short palpebral fissure0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0012745HP:0012745Short palpebral fissure0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0012745HP:0012745Short palpebral fissure0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0012745HP:0012745Short palpebral fissure0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0012745HP:0012745Short palpebral fissure0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0012745HP:0012745Short palpebral fissure0BCL11B CL E G H6491913222OMIM:617237Immunodeficiency 49.3
HP:0012745HP:0012745Short palpebral fissure0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0012745HP:0012745Short palpebral fissure0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0012745HP:0012745Short palpebral fissure0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040282 - Frequent5769
HP:0012745HP:0012745Short palpebral fissure0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040282 - Frequent7642
HP:0012745HP:0012745Short palpebral fissure0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040282 - Frequent1086
HP:0012745HP:0012745Short palpebral fissure0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0012745HP:0012745Short palpebral fissure0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0012745HP:0012745Short palpebral fissure0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0012745HP:0012745Short palpebral fissure0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent35
HP:0012745HP:0012745Short palpebral fissure0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0012745HP:0012745Short palpebral fissure0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0012745HP:0012745Short palpebral fissure0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012745HP:0012745Short palpebral fissure0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0012745HP:0012745Short palpebral fissure0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0012745HP:0012745Short palpebral fissure0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0012745HP:0012745Short palpebral fissure0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0012745HP:0012745Short palpebral fissure0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0012745HP:0012745Short palpebral fissure0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040282 - Frequent158
HP:0012745HP:0012745Short palpebral fissure0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0012745HP:0012745Short palpebral fissure0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0012745HP:0012745Short palpebral fissure0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040282 - Frequent340
HP:0012745HP:0012745Short palpebral fissure0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040282 - Frequent58
HP:0012745HP:0012745Short palpebral fissure0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040282 - Frequent410
HP:0012745HP:0012745Short palpebral fissure0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040282 - Frequent147
HP:0012745HP:0012745Short palpebral fissure0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0012745HP:0012745Short palpebral fissure0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040282 - Frequent87
HP:0012745HP:0012745Short palpebral fissure0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0012745HP:0012745Short palpebral fissure0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040282 - Frequent157
HP:0012745HP:0012745Short palpebral fissure0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040282 - Frequent53
HP:0012745HP:0012745Short palpebral fissure0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040282 - Frequent107
HP:0012745HP:0012745Short palpebral fissure0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0012745HP:0012745Short palpebral fissure0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0012745HP:0012745Short palpebral fissure0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0012745HP:0012745Short palpebral fissure0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0012745HP:0012745Short palpebral fissure0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0012745HP:0012745Short palpebral fissure0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0012745HP:0012745Short palpebral fissure0H4C5 CL E G H83674790OMIM:619950
HP:0012745HP:0012745Short palpebral fissure0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0012745HP:0012745Short palpebral fissure0HNRNPR CL E G H102365047OMIM:620073
HP:0012745HP:0012745Short palpebral fissure0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0012745HP:0012745Short palpebral fissure0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0012745HP:0012745Short palpebral fissure0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0012745HP:0012745Short palpebral fissure0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0012745HP:0012745Short palpebral fissure0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0012745HP:0012745Short palpebral fissure0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0012745HP:0012745Short palpebral fissure0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0012745HP:0012745Short palpebral fissure0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0012745HP:0012745Short palpebral fissure0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0012745HP:0012745Short palpebral fissure0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0012745HP:0012745Short palpebral fissure0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040282 - Frequent16
HP:0012745HP:0012745Short palpebral fissure0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0012745HP:0012745Short palpebral fissure0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0012745HP:0012745Short palpebral fissure0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040282 - Frequent1
HP:0012745HP:0012745Short palpebral fissure0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0012745HP:0012745Short palpebral fissure0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0012745HP:0012745Short palpebral fissure0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent63
HP:0012745HP:0012745Short palpebral fissure0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0012745HP:0012745Short palpebral fissure0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0012745HP:0012745Short palpebral fissure0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0012745HP:0012745Short palpebral fissure0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0012745HP:0012745Short palpebral fissure0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040282 - Frequent37
HP:0012745HP:0012745Short palpebral fissure0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0012745HP:0012745Short palpebral fissure0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0012745HP:0012745Short palpebral fissure0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0012745HP:0012745Short palpebral fissure0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0012745HP:0012745Short palpebral fissure0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0012745HP:0012745Short palpebral fissure0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040282 - Frequent1349
HP:0012745HP:0012745Short palpebral fissure0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0012745HP:0012745Short palpebral fissure0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0012745HP:0012745Short palpebral fissure0POLR1A CL E G H2588517264ORPHA:1200Burn-McKeown syndromeHP:0040281 - Very frequent8
HP:0012745HP:0012745Short palpebral fissure0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0012745HP:0012745Short palpebral fissure0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0012745HP:0012745Short palpebral fissure0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0012745HP:0012745Short palpebral fissure0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0012745HP:0012745Short palpebral fissure0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040282 - Frequent9
HP:0012745HP:0012745Short palpebral fissure0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040282 - Frequent391
HP:0012745HP:0012745Short palpebral fissure0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0012745HP:0012745Short palpebral fissure0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0012745HP:0012745Short palpebral fissure0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 3HP:0040283 - Occasional3
HP:0012745HP:0012745Short palpebral fissure0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040282 - Frequent
HP:0012745HP:0012745Short palpebral fissure0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0012745HP:0012745Short palpebral fissure0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040282 - Frequent86
HP:0012745HP:0012745Short palpebral fissure0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040281 - Very frequent86
HP:0012745HP:0012745Short palpebral fissure0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0012745HP:0012745Short palpebral fissure0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0012745HP:0012745Short palpebral fissure0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0012745HP:0012745Short palpebral fissure0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0012745HP:0012745Short palpebral fissure0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040282 - Frequent274
HP:0012745HP:0012745Short palpebral fissure0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0012745HP:0012745Short palpebral fissure0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0012745HP:0012745Short palpebral fissure0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0012745HP:0012745Short palpebral fissure0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0012745HP:0012745Short palpebral fissure0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0012745HP:0012745Short palpebral fissure0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0012745HP:0012745Short palpebral fissure0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0012745HP:0012745Short palpebral fissure0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0012745HP:0012745Short palpebral fissure0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0012745HP:0012745Short palpebral fissure0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0012745HP:0012745Short palpebral fissure0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0012745HP:0012745Short palpebral fissure0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0012745HP:0012745Short palpebral fissure0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0012745HP:0012745Short palpebral fissure0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0012745HP:0012745Short palpebral fissure0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0012745HP:0012745Short palpebral fissure0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0012745HP:0012745Short palpebral fissure0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0012745HP:0012745Short palpebral fissure0TXNL4A CL E G H1090730551ORPHA:1200Burn-McKeown syndromeHP:0040281 - Very frequent19
HP:0012745HP:0012745Short palpebral fissure0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0012745HP:0012745Short palpebral fissure0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040282 - Frequent2
HP:0012745HP:0012745Short palpebral fissure0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0012745HP:0012745Short palpebral fissure0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012745HP:0012745Short palpebral fissure0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0012745HP:0012745Short palpebral fissure0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0012745HP:0012745Short palpebral fissure0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040282 - Frequent20
HP:0012745HP:0012745Short palpebral fissure0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040282 - Frequent125
HP:0012745HP:0012745Short palpebral fissure0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0012745HP:0012745Short palpebral fissure0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0012745HP:0012745Short palpebral fissure0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0012745HP:0012745Short palpebral fissure0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4


Genes (110) :AFF3 ALDH1A3 ALX4 AUTS2 B3GLCT BCL11B BPTF BRCA1 BRCA2 BRIP1 CDK13 CEP57 CHD4 CHN1 CLTCL1 COG7 CREBBP DCHS1 DDB1 DLK1 DONSON EP300 ERCC4 ERMARD EXOSC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FBXO28 GJA1 GJA5 GJA8 H4C5 HNRNPH2 HNRNPR HUWE1 KANSL1 KAT6B KCNJ2 KCNJ5 KIF15 KMT2A KRAS LARP7 LIFR LMNA MAD2L2 MADD MAFB MAGEL2 MAPRE2 MEG3 MOGS MUSK MYCN NUAK2 ORC1 PALB2 PIEZO2 POLA1 POLR1A PPP1R12A PRKAR1B PRMT7 PUF60 RAD51 RAD51C RBM10 RBPJ RFWD3 RTL1 SALL4 SETBP1 SIN3A SLC25A24 SLC2A10 SLX4 SMAD4 SMARCA2 SMOC1 SMPD4 SNX14 SOX11 SOX6 SOX9 STAC3 STT3A TBX1 TBX15 THOC6 TMEM107 TUBB TXNL4A UBE2T UBE3B UGDH USP9X WAC XRCC2 ZBTB18 ZMPSTE24 ZNF148

Diseases (96) :OMIM:619297 OMIM:615113 OMIM:613451 ORPHA:352490 OMIM:615834 ORPHA:709 OMIM:617237 OMIM:618092 OMIM:617755 ORPHA:84 OMIM:617360 OMIM:614114 OMIM:617159 ORPHA:233 ORPHA:453510 OMIM:608779 OMIM:618332 OMIM:601390 OMIM:619426 ORPHA:96334 OMIM:251230 OMIM:618333 ORPHA:75857 OMIM:617763 OMIM:615546 OMIM:619777 OMIM:164200 OMIM:257850 OMIM:612474 OMIM:619950 OMIM:300986 OMIM:620073 OMIM:309590 ORPHA:363958 ORPHA:363965 ORPHA:3047 OMIM:170390 ORPHA:37553 ORPHA:261323 ORPHA:319182 ORPHA:3339 ORPHA:319671 OMIM:601559 ORPHA:1662 OMIM:619004 OMIM:619005 OMIM:615547 OMIM:616734 OMIM:606056 ORPHA:79330 OMIM:208150 OMIM:164280 ORPHA:391641 OMIM:619452 OMIM:224690 ORPHA:2461 OMIM:301030 ORPHA:1200 OMIM:618820 OMIM:619680 OMIM:617157 ORPHA:508498 ORPHA:2886 OMIM:311900 OMIM:614814 ORPHA:959 OMIM:616078 OMIM:613406 OMIM:612289 ORPHA:3342 OMIM:613951 ORPHA:2588 ORPHA:3051 OMIM:206920 OMIM:618622 ORPHA:397709 OMIM:616354 OMIM:615866 OMIM:618971 OMIM:114290 OMIM:255995 OMIM:619714 OMIM:188400 OMIM:260660 OMIM:613680 OMIM:617563 OMIM:156610 OMIM:608572 ORPHA:2707 OMIM:618792 OMIM:300968 ORPHA:480880 ORPHA:284169 OMIM:612337 OMIM:275210 OMIM:617260
 

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