Human Phenotype Ontology 
Grandparent Node:
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Abnormality of finger (HP:0001167)help
Parent Node:
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Abnormal thumb morphology (HP:0001172)help
..Starting node
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Adducted thumb (HP:0001181)help
Term ID: 1181
Name: Adducted thumb
Synonym: Adducted thumbs; Inward turned thumb; Thumb-in-palm deformity; Thumb-in-palm pattern
Definition: In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Comments:
Reference: HP:0001181
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of thumb epiphysis (HP:0009599) help
..expandAbnormality of thumb phalanx (HP:0009602) help
..expandAplasia/Hypoplasia of the thumb (HP:0009601) help
..expandDeviation of the thumb (HP:0009603) help
..expandFlexion contracture of thumb (HP:0009600) help
..expandPreaxial hand polydactyly (HP:0001177) 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:0001181HP:0001181Adducted thumb0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0001181HP:0001181Adducted thumb0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0001181HP:0001181Adducted thumb0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0001181HP:0001181Adducted thumb0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001181HP:0001181Adducted thumb0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0001181HP:0001181Adducted thumb0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001181HP:0001181Adducted thumb0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0001181HP:0001181Adducted thumb0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001181HP:0001181Adducted thumb0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0001181HP:0001181Adducted thumb0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001181HP:0001181Adducted thumb0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4.
HP:0001181HP:0001181Adducted thumb0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0001181HP:0001181Adducted thumb0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001181HP:0001181Adducted thumb0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0001181HP:0001181Adducted thumb0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0001181HP:0001181Adducted thumb0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001181HP:0001181Adducted thumb0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001181HP:0001181Adducted thumb0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001181HP:0001181Adducted thumb0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0001181HP:0001181Adducted thumb0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001181HP:0001181Adducted thumb0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0001181HP:0001181Adducted thumb0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0001181HP:0001181Adducted thumb0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0001181HP:0001181Adducted thumb0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0001181HP:0001181Adducted thumb0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0001181HP:0001181Adducted thumb0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0001181HP:0001181Adducted thumb0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0DPH2 CL E G H18023004OMIM:620062
HP:0001181HP:0001181Adducted thumb0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0001181HP:0001181Adducted thumb0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0001181HP:0001181Adducted thumb0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0001181HP:0001181Adducted thumb0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0001181HP:0001181Adducted thumb0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0001181HP:0001181Adducted thumb0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001181HP:0001181Adducted thumb0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0001181HP:0001181Adducted thumb0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0001181HP:0001181Adducted thumb0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0001181HP:0001181Adducted thumb0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0001181HP:0001181Adducted thumb0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0001181HP:0001181Adducted thumb0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0001181HP:0001181Adducted thumb0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001181HP:0001181Adducted thumb0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001181HP:0001181Adducted thumb0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001181HP:0001181Adducted thumb0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001181HP:0001181Adducted thumb0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0001181HP:0001181Adducted thumb0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0001181HP:0001181Adducted thumb0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0001181HP:0001181Adducted thumb0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0001181HP:0001181Adducted thumb0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0001181HP:0001181Adducted thumb0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H38976470OMIM:307000Hydrocephalus due to congenital stenosis of aqueduct of sylvius.134
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040282 - Frequent134
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H38976470OMIM:303350MASA syndrome.134
HP:0001181HP:0001181Adducted thumb0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040283 - Occasional134
HP:0001181HP:0001181Adducted thumb0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0001181HP:0001181Adducted thumb0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0001181HP:0001181Adducted thumb0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0001181HP:0001181Adducted thumb0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001181HP:0001181Adducted thumb0MYBPC1 CL E G H46047549ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent66
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3166
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46217573ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent166
HP:0001181HP:0001181Adducted thumb0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent166
HP:0001181HP:0001181Adducted thumb0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H25923219082ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent48
HP:0001181HP:0001181Adducted thumb0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent48
HP:0001181HP:0001181Adducted thumb0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0001181HP:0001181Adducted thumb0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0001181HP:0001181Adducted thumb0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0001181HP:0001181Adducted thumb0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0001181HP:0001181Adducted thumb0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0001181HP:0001181Adducted thumb0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0001181HP:0001181Adducted thumb0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional5
HP:0001181HP:0001181Adducted thumb0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0001181HP:0001181Adducted thumb0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0001181HP:0001181Adducted thumb0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0001181HP:0001181Adducted thumb0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0001181HP:0001181Adducted thumb0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001181HP:0001181Adducted thumb0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0001181HP:0001181Adducted thumb0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0001181HP:0001181Adducted thumb0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0001181HP:0001181Adducted thumb0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0001181HP:0001181Adducted thumb0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0001181HP:0001181Adducted thumb0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001181HP:0001181Adducted thumb0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0001181HP:0001181Adducted thumb0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0001181HP:0001181Adducted thumb0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0001181HP:0001181Adducted thumb0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0001181HP:0001181Adducted thumb0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0001181HP:0001181Adducted thumb0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040282 - Frequent14
HP:0001181HP:0001181Adducted thumb0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0001181HP:0001181Adducted thumb0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0001181HP:0001181Adducted thumb0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0001181HP:0001181Adducted thumb0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0TNNI2 CL E G H713611946ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent37
HP:0001181HP:0001181Adducted thumb0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent37
HP:0001181HP:0001181Adducted thumb0TNNT3 CL E G H714011950OMIM:618435Arthrogryposis, distal, type 2B2.43
HP:0001181HP:0001181Adducted thumb0TNNT3 CL E G H714011950ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent43
HP:0001181HP:0001181Adducted thumb0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent43
HP:0001181HP:0001181Adducted thumb0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001181HP:0001181Adducted thumb0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H716912011ORPHA:1146Distal arthrogryposis type 1HP:0040281 - Very frequent54
HP:0001181HP:0001181Adducted thumb0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040281 - Very frequent54
HP:0001181HP:0001181Adducted thumb0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional
HP:0001181HP:0001181Adducted thumb0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040283 - Occasional14
HP:0001181HP:0001181Adducted thumb0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001181HP:0001181Adducted thumb0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362


Genes (110) :ABCD1 ACTA1 ADGRG6 ALDH18A1 ALG13 ALG3 ANKLE2 AP4M1 ATAD1 ATP7A B3GALT6 BAZ1B BCL7B BLTP1 BUD23 CHST11 CHST14 CLIP2 COG7 COL12A1 COL6A1 COL6A2 COL6A3 CREBBP CRLF1 CRPPA DLK1 DNAJC30 DPH2 DSE ECE1 ECEL1 EDN3 EDNRB EIF4H ELN EP300 EPB41L1 ERBB2 ERBB3 ERCC1 EXOSC9 FBLN5 FBN1 FBN2 FKBP6 GDNF GNB1 GPKOW GTF2I GTF2IRD1 GTF2IRD2 KATNB1 KCNH1 KLHL40 KLHL41 L1CAM LAGE3 LIFR LIMK1 LMOD3 MED25 MEG3 METTL27 MLXIPL MSL3 MYBPC1 MYH3 MYL11 NALCN NCF1 NDE1 NEB NEK9 NRTN NUP107 NUP133 OSGEP PCGF2 PHGDH PIGY RBM8A RELN RET RFC2 RFT1 RTL1 SEMA3C SEMA3D SHMT2 SLC9A6 SMO SMPD4 SREBF1 STUB1 STX1A SYNE1 TAPT1 TBL2 TMEM270 TNNI2 TNNT3 TOR1A TP53RK TPM2 TPRKB VPS37D WDR4 WDR73 ZEB2

Diseases (73) :ORPHA:388 ORPHA:171430 OMIM:616503 ORPHA:90348 OMIM:616603 OMIM:219150 ORPHA:324422 OMIM:601110 OMIM:616681 OMIM:612936 OMIM:618011 ORPHA:536467 ORPHA:904 OMIM:617822 OMIM:618167 OMIM:601776 ORPHA:79333 OMIM:608779 ORPHA:75840 ORPHA:536516 ORPHA:353277 OMIM:272430 OMIM:614643 ORPHA:96334 OMIM:620062 OMIM:615539 OMIM:615065 ORPHA:353284 OMIM:614257 OMIM:610758 OMIM:618065 ORPHA:284979 OMIM:121050 OMIM:616973 ORPHA:2570 ORPHA:89844 OMIM:611816 OMIM:307000 ORPHA:2182 OMIM:303350 ORPHA:306617 ORPHA:2065 OMIM:601559 ORPHA:464738 OMIM:301032 ORPHA:1146 OMIM:193700 OMIM:618436 ORPHA:1147 OMIM:619110 OMIM:616266 OMIM:619334 OMIM:617022 OMIM:618371 ORPHA:79351 OMIM:601815 OMIM:616809 OMIM:274000 ORPHA:3320 OMIM:612015 OMIM:619121 ORPHA:85278 OMIM:300243 OMIM:618622 ORPHA:412057 OMIM:618484 ORPHA:319332 OMIM:616897 OMIM:618435 OMIM:618947 OMIM:108120 ORPHA:261552 ORPHA:261537
 

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