Human Phenotype Ontology 
Grandparent Node:
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Abnormal finger phalanx morphology (HP:0005918)help
Grandparent Node:
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Broad finger (HP:0001500)help
Grandparent Node:
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Broad phalanx (HP:0006009)help
Grandparent Node:
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obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)help
Parent Node:
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Abnormality of thumb phalanx (HP:0009602)help
Parent Node:
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Broad phalanges of the hand (HP:0009768)help
..Starting node
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Broad thumb (HP:0011304)help
Term ID: 11304
Name: Broad thumb
Synonym: Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges
Definition: Increased thumb width without increased dorso-ventral dimension.
Comments:
Reference: HP:0011304
Genes and Diseases:
 
       Child Nodes:
........expandSpatulate thumbs (HP:0001222) help
........expandBroad proximal phalanx of the thumb (HP:0009630) help
........expandBroad distal phalanx of the thumb (HP:0009642) help

 Sister Nodes: 
..expandBroad distal phalanx of finger (HP:0009836) help
..expandBroad middle phalanx of finger (HP:0009844) help
..expandBroad phalanges of the 2nd finger (HP:0009547) help
..expandBroad phalanges of the 3rd finger (HP:0009440) help
..expandBroad phalanges of the 4th finger (HP:0009404) help
..expandBroad phalanges of the 5th finger (HP:0009374) help
..expandBroad proximal phalanges of the hand (HP:0009852) help
..expandExpanded phalanges with widened medullary cavities (HP:0006112) 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:0011304HP:0011304Broad thumb0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0011304HP:0011304Broad thumb0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0011304HP:0011304Broad thumb0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0011304HP:0011304Broad thumb0ALX4 CL E G H60529450ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare132
HP:0011304HP:0011304Broad thumb0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0011304HP:0011304Broad thumb0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0011304HP:0011304Broad thumb0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0011304HP:0011304Broad thumb0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0011304HP:0011304Broad thumb0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0011304HP:0011304Broad thumb0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0011304HP:0011304Broad thumb0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0011304HP:0011304Broad thumb0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0011304HP:0011304Broad thumb0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0011304HP:0011304Broad thumb0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0011304HP:0011304Broad thumb0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0011304HP:0011304Broad thumb0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0011304HP:0011304Broad thumb0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0011304HP:0011304Broad thumb0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0011304HP:0011304Broad thumb0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0011304HP:0011304Broad thumb0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0011304HP:0011304Broad thumb0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040282 - Frequent4
HP:0011304HP:0011304Broad thumb0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0011304HP:0011304Broad thumb0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0011304HP:0011304Broad thumb0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0011304HP:0011304Broad thumb0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0011304HP:0011304Broad thumb0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040282 - Frequent81
HP:0011304HP:0011304Broad thumb0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0011304HP:0011304Broad thumb0FGF9 CL E G H22543687ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent75
HP:0011304HP:0011304Broad thumb0FGF9 CL E G H22543687OMIM:612961Multiple synostoses syndrome 3HP:0040284 - Very rare75
HP:0011304HP:0011304Broad thumb0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0011304HP:0011304Broad thumb0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0011304HP:0011304Broad thumb0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0011304HP:0011304Broad thumb0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0011304HP:0011304Broad thumb0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0011304HP:0011304Broad thumb0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent493
HP:0011304HP:0011304Broad thumb0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0011304HP:0011304Broad thumb0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0011304HP:0011304Broad thumb0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0011304HP:0011304Broad thumb0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0011304HP:0011304Broad thumb0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0011304HP:0011304Broad thumb0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0011304HP:0011304Broad thumb0GDF5 CL E G H82004220ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent52
HP:0011304HP:0011304Broad thumb0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0011304HP:0011304Broad thumb0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H27374319ORPHA:380Greig cephalopolysyndactyly syndromeHP:0040283 - Occasional270
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndromeHP:0040282 - Frequent270
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0011304HP:0011304Broad thumb0GLI3 CL E G H27374319OMIM:174200Polydactyly, postaxial, type A1HP:0040283 - Occasional270
HP:0011304HP:0011304Broad thumb0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0011304HP:0011304Broad thumb0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0011304HP:0011304Broad thumb0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0011304HP:0011304Broad thumb0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H22394452OMIM:301026Keipert syndrome.
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0011304HP:0011304Broad thumb0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0011304HP:0011304Broad thumb0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011304HP:0011304Broad thumb0HNRNPR CL E G H102365047OMIM:620073
HP:0011304HP:0011304Broad thumb0HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D25
HP:0011304HP:0011304Broad thumb0HPGD CL E G H32485154ORPHA:217059Isolated congenital digital clubbing55
HP:0011304HP:0011304Broad thumb0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040283 - Occasional18
HP:0011304HP:0011304Broad thumb0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0011304HP:0011304Broad thumb0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0011304HP:0011304Broad thumb0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent88
HP:0011304HP:0011304Broad thumb0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011304HP:0011304Broad thumb0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent11
HP:0011304HP:0011304Broad thumb0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 211
HP:0011304HP:0011304Broad thumb0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0011304HP:0011304Broad thumb0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0011304HP:0011304Broad thumb0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040282 - Frequent13
HP:0011304HP:0011304Broad thumb0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0011304HP:0011304Broad thumb0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0011304HP:0011304Broad thumb0MSX2 CL E G H44887392ORPHA:60015Enlarged parietal foraminaHP:0040284 - Very rare45
HP:0011304HP:0011304Broad thumb0NOG CL E G H92417866ORPHA:3237Multiple synostoses syndromeHP:0040282 - Frequent22
HP:0011304HP:0011304Broad thumb0NOG CL E G H92417866OMIM:184460Stapes ankylosis with broad thumb and toesHP:0040281 - Very frequent22
HP:0011304HP:0011304Broad thumb0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040282 - Frequent544
HP:0011304HP:0011304Broad thumb0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040281 - Very frequent84
HP:0011304HP:0011304Broad thumb0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0011304HP:0011304Broad thumb0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0011304HP:0011304Broad thumb0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0011304HP:0011304Broad thumb0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0011304HP:0011304Broad thumb0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0011304HP:0011304Broad thumb0PCDHGC4 CL E G H560988717OMIM:619880
HP:0011304HP:0011304Broad thumb0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0011304HP:0011304Broad thumb0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0011304HP:0011304Broad thumb0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0011304HP:0011304Broad thumb0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040283 - Occasional4
HP:0011304HP:0011304Broad thumb0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0011304HP:0011304Broad thumb0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0011304HP:0011304Broad thumb0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0011304HP:0011304Broad thumb0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0011304HP:0011304Broad thumb0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040282 - Frequent31
HP:0011304HP:0011304Broad thumb0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0011304HP:0011304Broad thumb0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0011304HP:0011304Broad thumb0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H492010257OMIM:113000Brachydactyly, type B1.120
HP:0011304HP:0011304Broad thumb0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0011304HP:0011304Broad thumb0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0011304HP:0011304Broad thumb0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0011304HP:0011304Broad thumb0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0011304HP:0011304Broad thumb0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0011304HP:0011304Broad thumb0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0011304HP:0011304Broad thumb0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0011304HP:0011304Broad thumb0SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0011304HP:0011304Broad thumb0SMO CL E G H660811119OMIM:601707Curry-Jones syndromeHP:0040283 - Occasional22
HP:0011304HP:0011304Broad thumb0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0011304HP:0011304Broad thumb0SNIP1 CL E G H7975330587OMIM:614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism.3
HP:0011304HP:0011304Broad thumb0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0011304HP:0011304Broad thumb0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0011304HP:0011304Broad thumb0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0011304HP:0011304Broad thumb0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040282 - Frequent1
HP:0011304HP:0011304Broad thumb0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040283 - Occasional123
HP:0011304HP:0011304Broad thumb0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0011304HP:0011304Broad thumb0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0011304HP:0011304Broad thumb0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0011304HP:0011304Broad thumb0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0011304HP:0011304Broad thumb0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0011304HP:0011304Broad thumb0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0011304HP:0009630Broad proximal phalanx of the thumb1 CL E G H
HP:0011304HP:0001222Spatulate thumbs1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0011304HP:0001222Spatulate thumbs1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0011304HP:0009642Broad distal phalanx of the thumb1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0011304HP:0009642Broad distal phalanx of the thumb1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0011304HP:0001222Spatulate thumbs1FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0011304HP:0009642Broad distal phalanx of the thumb1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0011304HP:0009642Broad distal phalanx of the thumb1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0011304HP:0009642Broad distal phalanx of the thumb1HOXD13 CL E G H32395136OMIM:113200Brachydactyly, type D.25


Genes (80) :ACAN ADNP ALX4 B3GAT3 BICRA BMP2 BMPR1A BPTF CHST3 COL2A1 CREBBP DACT1 DNM1L DVL1 DVL3 EED EP300 EXOSC2 EZH2 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB G6PC3 GATA4 GDF5 GJA5 GJA8 GLI3 GNAS GPC3 GPC4 H3-3A HNRNPR HOXD13 HPGD INPPL1 KCNH1 LIG4 MAN2C1 MAP3K7 MED12 MEGF8 MEIS2 MSX2 NOG NSD1 NSUN2 NXN OTUD6B PACS1 PCDHGC4 POGZ PRKD1 PRKG2 PSMD12 PTEN PUF60 PYCR2 RAB23 RBM8A RLIM ROR2 SALL1 SATB2 SIAH1 SMO SMOC1 SNIP1 SRCAP SUMF1 SUZ12 TBX5 TTC26 TWIST1 USP9X WNT5A XYLT1

Diseases (102) :ORPHA:171866 OMIM:612813 ORPHA:404448 ORPHA:60015 OMIM:245600 OMIM:619325 ORPHA:261295 ORPHA:79076 ORPHA:529962 OMIM:271700 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:857 OMIM:614388 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:617561 ORPHA:3447 OMIM:613684 ORPHA:353284 OMIM:617763 OMIM:277590 ORPHA:3237 OMIM:612961 OMIM:101600 ORPHA:93258 ORPHA:87 OMIM:101200 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:602849 ORPHA:1826 OMIM:311300 OMIM:304120 OMIM:150250 ORPHA:503 OMIM:612541 ORPHA:251071 OMIM:612474 ORPHA:380 OMIM:175700 ORPHA:672 OMIM:174200 ORPHA:79443 ORPHA:79444 ORPHA:373 OMIM:312870 OMIM:301026 ORPHA:2662 OMIM:619720 OMIM:620073 OMIM:113200 ORPHA:217059 ORPHA:2746 ORPHA:420561 OMIM:611816 ORPHA:235 OMIM:619775 OMIM:617137 OMIM:309520 OMIM:305450 ORPHA:65759 OMIM:614976 OMIM:600987 OMIM:184460 ORPHA:1507 OMIM:618529 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:619880 OMIM:616364 OMIM:617364 OMIM:619638 ORPHA:109 ORPHA:508498 ORPHA:481152 ORPHA:3320 OMIM:274000 OMIM:300978 OMIM:113000 OMIM:268310 OMIM:107480 ORPHA:251019 ORPHA:251028 ORPHA:576283 OMIM:619314 ORPHA:1553 OMIM:601707 ORPHA:1106 OMIM:614501 OMIM:136140 OMIM:272200 ORPHA:585 ORPHA:392 OMIM:619534 OMIM:300919 OMIM:615777 ORPHA:370930
 

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