Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Abnormal foot morphology (HP:0001760)help
Parent Node:
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Abnormal tendon morphology (HP:0100261)help
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Abnormality of the Achilles tendon (HP:0005109)help
Term ID: 5109
Name: Abnormality of the Achilles tendon
Synonym: Abnormality of the Achilles tendon; Abnormality of the calcaneal tendon
Definition: An abnormality of the Achilles tendon.
Comments:
Reference: HP:0005109
Genes and Diseases:
 
       Child Nodes:
........expandAchilles tendon contracture (HP:0001771) help
........expandThickened Achilles tendon (HP:0004690) help
........expandAchilles tendon calcification (HP:0025441) help

 Sister Nodes: 
..expandDigital flexor tenosynovitis (HP:0012276) help
..expandFlexion contracture (HP:0001371) help
..expandTendon rupture (HP:0100550) help
..expandTendon xanthomatosis (HP:0010874) help
..expandTendonitis (HP:0025230) 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:0005109HP:0005109Abnormality of the Achilles tendon0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0005109HP:0005109Abnormality of the Achilles tendon0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0005109HP:0005109Abnormality of the Achilles tendon0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0005109HP:0005109Abnormality of the Achilles tendon0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0005109HP:0005109Abnormality of the Achilles tendon0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending114
HP:0005109HP:0005109Abnormality of the Achilles tendon0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0005109HP:0005109Abnormality of the Achilles tendon0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0005109HP:0005109Abnormality of the Achilles tendon0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0005109HP:0005109Abnormality of the Achilles tendon0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0005109HP:0005109Abnormality of the Achilles tendon0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0005109HP:0005109Abnormality of the Achilles tendon0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0005109HP:0005109Abnormality of the Achilles tendon0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0005109HP:0005109Abnormality of the Achilles tendon0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0005109HP:0005109Abnormality of the Achilles tendon0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0005109HP:0005109Abnormality of the Achilles tendon0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0005109HP:0005109Abnormality of the Achilles tendon0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0005109HP:0005109Abnormality of the Achilles tendon0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0005109HP:0005109Abnormality of the Achilles tendon0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0005109HP:0005109Abnormality of the Achilles tendon0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0005109HP:0005109Abnormality of the Achilles tendon0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0005109HP:0005109Abnormality of the Achilles tendon0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0005109HP:0005109Abnormality of the Achilles tendon0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040282 - Frequent157
HP:0005109HP:0005109Abnormality of the Achilles tendon0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0005109HP:0005109Abnormality of the Achilles tendon0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0005109HP:0005109Abnormality of the Achilles tendon0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0005109HP:0005109Abnormality of the Achilles tendon0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0005109HP:0005109Abnormality of the Achilles tendon0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0005109HP:0005109Abnormality of the Achilles tendon0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0005109HP:0005109Abnormality of the Achilles tendon0HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0005109HP:0005109Abnormality of the Achilles tendon0HGD CL E G H30814892ORPHA:56Alkaptonuria77
HP:0005109HP:0005109Abnormality of the Achilles tendon0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0005109HP:0005109Abnormality of the Achilles tendon0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0005109HP:0005109Abnormality of the Achilles tendon0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0005109HP:0005109Abnormality of the Achilles tendon0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0005109HP:0005109Abnormality of the Achilles tendon0KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0005109HP:0005109Abnormality of the Achilles tendon0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0005109HP:0005109Abnormality of the Achilles tendon0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0005109HP:0005109Abnormality of the Achilles tendon0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0005109HP:0005109Abnormality of the Achilles tendon0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0005109HP:0005109Abnormality of the Achilles tendon0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0005109HP:0005109Abnormality of the Achilles tendon0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0005109HP:0005109Abnormality of the Achilles tendon0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0005109HP:0005109Abnormality of the Achilles tendon0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0005109HP:0005109Abnormality of the Achilles tendon0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0005109HP:0005109Abnormality of the Achilles tendon0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0005109HP:0005109Abnormality of the Achilles tendon0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0005109HP:0005109Abnormality of the Achilles tendon0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0005109HP:0005109Abnormality of the Achilles tendon0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0005109HP:0005109Abnormality of the Achilles tendon0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0005109HP:0005109Abnormality of the Achilles tendon0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0005109HP:0005109Abnormality of the Achilles tendon0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040282 - Frequent83
HP:0005109HP:0005109Abnormality of the Achilles tendon0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0005109HP:0005109Abnormality of the Achilles tendon0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0005109HP:0005109Abnormality of the Achilles tendon0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0005109HP:0005109Abnormality of the Achilles tendon0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0005109HP:0005109Abnormality of the Achilles tendon0SLC12A6 CL E G H999010914OMIM:620068163
HP:0005109HP:0005109Abnormality of the Achilles tendon0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0005109HP:0005109Abnormality of the Achilles tendon0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0005109HP:0005109Abnormality of the Achilles tendon0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0005109HP:0005109Abnormality of the Achilles tendon0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0005109HP:0005109Abnormality of the Achilles tendon0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040281 - Very frequent18
HP:0005109HP:0005109Abnormality of the Achilles tendon0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0005109HP:0005109Abnormality of the Achilles tendon0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0005109HP:0005109Abnormality of the Achilles tendon0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0005109HP:0005109Abnormality of the Achilles tendon0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0005109HP:0001771Achilles tendon contracture1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0005109HP:0001771Achilles tendon contracture1ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0005109HP:0001771Achilles tendon contracture1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0005109HP:0001771Achilles tendon contracture1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0005109HP:0001771Achilles tendon contracture1ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0005109HP:0001771Achilles tendon contracture1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0005109HP:0001771Achilles tendon contracture1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0005109HP:0001771Achilles tendon contracture1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0005109HP:0001771Achilles tendon contracture1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0005109HP:0001771Achilles tendon contracture1COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0005109HP:0001771Achilles tendon contracture1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0005109HP:0001771Achilles tendon contracture1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0005109HP:0001771Achilles tendon contracture1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0005109HP:0001771Achilles tendon contracture1EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked.107
HP:0005109HP:0001771Achilles tendon contracture1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0005109HP:0001771Achilles tendon contracture1FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0005109HP:0001771Achilles tendon contracture1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0005109HP:0001771Achilles tendon contracture1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0005109HP:0001771Achilles tendon contracture1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0005109HP:0001771Achilles tendon contracture1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0005109HP:0001771Achilles tendon contracture1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0005109HP:0001771Achilles tendon contracture1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0005109HP:0001771Achilles tendon contracture1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0005109HP:0004690Thickened Achilles tendon1HGD CL E G H30814892OMIM:203500Alkaptonuria77
HP:0005109HP:0004690Thickened Achilles tendon1HGD CL E G H30814892ORPHA:56AlkaptonuriaHP:0040282 - Frequent77
HP:0005109HP:0001771Achilles tendon contracture1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0005109HP:0001771Achilles tendon contracture1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0005109HP:0004690Thickened Achilles tendon1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0005109HP:0001771Achilles tendon contracture1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0005109HP:0025441Achilles tendon calcification1KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0005109HP:0004690Thickened Achilles tendon1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040283 - Occasional100
HP:0005109HP:0001771Achilles tendon contracture1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0005109HP:0001771Achilles tendon contracture1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0005109HP:0001771Achilles tendon contracture1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0005109HP:0001771Achilles tendon contracture1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0005109HP:0001771Achilles tendon contracture1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0005109HP:0001771Achilles tendon contracture1LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0005109HP:0001771Achilles tendon contracture1MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0005109HP:0001771Achilles tendon contracture1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0005109HP:0001771Achilles tendon contracture1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0005109HP:0001771Achilles tendon contracture1OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0005109HP:0001771Achilles tendon contracture1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0005109HP:0001771Achilles tendon contracture1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0005109HP:0001771Achilles tendon contracture1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0005109HP:0001771Achilles tendon contracture1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0005109HP:0001771Achilles tendon contracture1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0005109HP:0001771Achilles tendon contracture1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040283 - Occasional83
HP:0005109HP:0001771Achilles tendon contracture1SLC12A6 CL E G H999010914OMIM:620068163
HP:0005109HP:0001771Achilles tendon contracture1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0005109HP:0001771Achilles tendon contracture1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0005109HP:0001771Achilles tendon contracture1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0005109HP:0001771Achilles tendon contracture1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0005109HP:0001771Achilles tendon contracture1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0005109HP:0001771Achilles tendon contracture1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040284 - Very rare
HP:0005109HP:0001771Achilles tendon contracture1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0005109HP:0001771Achilles tendon contracture1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19


Genes (53) :ABCC9 ABHD12 ACTA1 ADAT3 ALS2 ARL6IP1 BICD2 COL12A1 COL6A1 COL6A2 COL6A3 CRPPA CYP27A1 DMD EMD FHL1 FKRP FKTN GAN GJB1 GNS HGD HINT1 HRAS JAG2 KL KRT1 KY LARGE1 LMNA LMX1B MYOT NGLY1 NSUN2 OPA1 PLEC POMT1 POU3F4 PRKCG PTRH2 PYROXD1 SGCA SGCG SLC12A6 SLC25A4 SLC39A14 SYNE1 SYNE2 TFG TMEM43 TRNE TTN ZC4H2

Diseases (55) :OMIM:619719 OMIM:612674 OMIM:616852 ORPHA:363528 OMIM:607225 ORPHA:401780 ORPHA:363454 OMIM:615290 ORPHA:610 OMIM:255600 ORPHA:370980 ORPHA:909 OMIM:310200 OMIM:310300 ORPHA:98863 OMIM:300696 ORPHA:34515 OMIM:606612 OMIM:607155 ORPHA:643 OMIM:302800 OMIM:252940 OMIM:203500 ORPHA:56 ORPHA:324442 OMIM:218040 ORPHA:3071 OMIM:619566 OMIM:617994 ORPHA:530838 OMIM:617114 OMIM:608840 ORPHA:79474 ORPHA:98853 ORPHA:98855 OMIM:181350 ORPHA:2614 OMIM:609200 ORPHA:404454 OMIM:611091 OMIM:210000 ORPHA:254361 ORPHA:1435 ORPHA:98763 ORPHA:456312 OMIM:617258 ORPHA:62 ORPHA:353 OMIM:620068 OMIM:615418 OMIM:617013 ORPHA:431329 ORPHA:2596 OMIM:603689 OMIM:301041
 

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