Human Phenotype Ontology 
Grandparent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
Parent Node:
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Peripheral neuropathy (HP:0009830)help
..Starting node
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Sensorimotor neuropathy (HP:0007141)help
Term ID: 7141
Name: Sensorimotor neuropathy
Synonym: Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy
Definition:
Comments:
Reference: HP:0007141
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute episodes of neuropathic symptoms (HP:0003489) help
..expandChronic sensorineural polyneuropathy (HP:0001301) help
..expandCongenital peripheral neuropathy (HP:0006903) help
..expandDemyelinating peripheral neuropathy (HP:0007108) help
..expandEntrapment neuropathy (HP:0012181) help
..expandEpisodic peripheral neuropathy (HP:0006949) help
..expandMixed demyelinating and axonal polyneuropathy (HP:0007327) help
..expandMononeuropathy (HP:0009831) help
..expandMotor polyneuropathy (HP:0007178) help
..expandPeripheral axonal neuropathy (HP:0003477) help
..expandPolyneuropathy (HP:0001271) help
..expandProgressive peripheral neuropathy (HP:0007133) help
..expandSensorimotor polyneuropathy affecting arms more than legs (HP:0006865) help
..expandSensory neuropathy (HP:0000763) help
..expandSomatic sensory dysfunction (HP:0003474) 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:0007141HP:0007141Sensorimotor neuropathy0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040282 - Frequent135
HP:0007141HP:0007141Sensorimotor neuropathy0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0007141HP:0007141Sensorimotor neuropathy0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0007141HP:0007141Sensorimotor neuropathy0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0007141HP:0007141Sensorimotor neuropathy0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040283 - Occasional31
HP:0007141HP:0007141Sensorimotor neuropathy0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040281 - Very frequent60
HP:0007141HP:0007141Sensorimotor neuropathy0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0007141HP:0007141Sensorimotor neuropathy0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0007141HP:0007141Sensorimotor neuropathy0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD.4
HP:0007141HP:0007141Sensorimotor neuropathy0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0007141HP:0007141Sensorimotor neuropathy0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0007141HP:0007141Sensorimotor neuropathy0CLCF1 CL E G H2352917412OMIM:610313Cold-Induced sweating syndrome 2.6
HP:0007141HP:0007141Sensorimotor neuropathy0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0007141HP:0007141Sensorimotor neuropathy0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0007141HP:0007141Sensorimotor neuropathy0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0007141HP:0007141Sensorimotor neuropathy0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0007141HP:0007141Sensorimotor neuropathy0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040282 - Frequent3
HP:0007141HP:0007141Sensorimotor neuropathy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040282 - Frequent94
HP:0007141HP:0007141Sensorimotor neuropathy0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0007141HP:0007141Sensorimotor neuropathy0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0007141HP:0007141Sensorimotor neuropathy0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0007141HP:0007141Sensorimotor neuropathy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0007141HP:0007141Sensorimotor neuropathy0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0007141HP:0007141Sensorimotor neuropathy0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040282 - Frequent30
HP:0007141HP:0007141Sensorimotor neuropathy0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0007141HP:0007141Sensorimotor neuropathy0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0007141HP:0007141Sensorimotor neuropathy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040284 - Very rare99
HP:0007141HP:0007141Sensorimotor neuropathy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040284 - Very rare60
HP:0007141HP:0007141Sensorimotor neuropathy0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0007141HP:0007141Sensorimotor neuropathy0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0007141HP:0007141Sensorimotor neuropathy0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040282 - Frequent1
HP:0007141HP:0007141Sensorimotor neuropathy0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0007141HP:0007141Sensorimotor neuropathy0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040282 - Frequent276
HP:0007141HP:0007141Sensorimotor neuropathy0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040283 - Occasional93
HP:0007141HP:0007141Sensorimotor neuropathy0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0007141HP:0007141Sensorimotor neuropathy0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0007141HP:0007141Sensorimotor neuropathy0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0007141HP:0007141Sensorimotor neuropathy0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0007141HP:0007141Sensorimotor neuropathy0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0007141HP:0007141Sensorimotor neuropathy0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0007141HP:0007141Sensorimotor neuropathy0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0007141HP:0007141Sensorimotor neuropathy0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0007141HP:0007141Sensorimotor neuropathy0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0007141HP:0007141Sensorimotor neuropathy0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0007141HP:0007141Sensorimotor neuropathy0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0007141HP:0007141Sensorimotor neuropathy0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0007141HP:0007141Sensorimotor neuropathy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0007141HP:0007141Sensorimotor neuropathy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040281 - Very frequent118
HP:0007141HP:0007141Sensorimotor neuropathy0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0007141HP:0007141Sensorimotor neuropathy0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040281 - Very frequent32
HP:0007141HP:0007141Sensorimotor neuropathy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040282 - Frequent214
HP:0007141HP:0007141Sensorimotor neuropathy0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0007141HP:0007141Sensorimotor neuropathy0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0007141HP:0007141Sensorimotor neuropathy0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0007141HP:0007141Sensorimotor neuropathy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0007141HP:0007141Sensorimotor neuropathy0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0007141HP:0007141Sensorimotor neuropathy0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0007141HP:0007141Sensorimotor neuropathy0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0007141HP:0007141Sensorimotor neuropathy0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040281 - Very frequent11
HP:0007141HP:0007141Sensorimotor neuropathy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0007141HP:0007141Sensorimotor neuropathy0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0007141HP:0007141Sensorimotor neuropathy0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0007141HP:0007141Sensorimotor neuropathy0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0007141HP:0007141Sensorimotor neuropathy0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0007141HP:0007141Sensorimotor neuropathy0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0007141HP:0007141Sensorimotor neuropathy0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0007141HP:0007141Sensorimotor neuropathy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0007141HP:0007141Sensorimotor neuropathy0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0007141HP:0007141Sensorimotor neuropathy0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0007141HP:0007141Sensorimotor neuropathy0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0007141HP:0007141Sensorimotor neuropathy0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0007141HP:0007141Sensorimotor neuropathy0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0007141HP:0007141Sensorimotor neuropathy0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0007141HP:0007141Sensorimotor neuropathy0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0007141HP:0007141Sensorimotor neuropathy0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0007141HP:0007141Sensorimotor neuropathy0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040281 - Very frequent162
HP:0007141HP:0007141Sensorimotor neuropathy0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0007141HP:0007141Sensorimotor neuropathy0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0007141HP:0007141Sensorimotor neuropathy0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 1HP:0040283 - Occasional42
HP:0007141HP:0007141Sensorimotor neuropathy0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0007141HP:0007141Sensorimotor neuropathy0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0007141HP:0007141Sensorimotor neuropathy0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC.149
HP:0007141HP:0007141Sensorimotor neuropathy0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0007141HP:0007141Sensorimotor neuropathy0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040281 - Very frequent18
HP:0007141HP:0007141Sensorimotor neuropathy0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0007141HP:0007141Sensorimotor neuropathy0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0007141HP:0007141Sensorimotor neuropathy0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0007141HP:0007141Sensorimotor neuropathy0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0007141HP:0007141Sensorimotor neuropathy0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0007141HP:0007141Sensorimotor neuropathy0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0007141HP:0007141Sensorimotor neuropathy0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0007141HP:0007141Sensorimotor neuropathy0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4


Genes (98) :ABCD1 ABHD12 AFG3L2 AHCY AIFM1 AMACR ATP1A1 ATP6 B2M B4GALNT1 CLCF1 CLP1 COA3 COA8 COX1 COX2 COX3 DHH DNAJC3 DNM1L EMILIN1 FDX2 GALC GBA2 GDAP1 GJB1 HADHA HADHB HSD17B4 IARS2 IFRD1 IGHMBP2 KIF1A KIF5A LAMA2 LIG3 LITAF MCM3AP MME MPV17 MPZ MRE11 ND1 ND2 ND3 ND4 ND5 ND6 NEFH NEFL NGLY1 OPA1 PDK3 PDYN PEX6 PEX7 PHYH PIGB PIK3R5 PLA2G6 PMP22 PNKP POLG PPP2R2B PSAP RAB7A RFC1 RNASEH1 RPIA RRM2B SACS SCO2 SCYL1 SETX SH3TC2 SLC25A46 SLC30A10 SLC52A2 SPG11 SPTLC2 TDP1 TFG TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TYMP UCHL1 VCP VPS13D VPS41 VRK1 XRCC1

Diseases (83) :ORPHA:139396 OMIM:612674 ORPHA:313772 OMIM:614487 ORPHA:88618 ORPHA:101078 OMIM:614307 ORPHA:79095 OMIM:618036 ORPHA:255210 ORPHA:314652 ORPHA:101006 OMIM:610313 ORPHA:411493 OMIM:619058 OMIM:619061 ORPHA:550 ORPHA:168563 ORPHA:445062 ORPHA:98673 OMIM:620080 OMIM:251900 ORPHA:206448 ORPHA:206436 OMIM:245200 ORPHA:352641 ORPHA:101097 ORPHA:1175 ORPHA:746 OMIM:233400 OMIM:616007 ORPHA:98771 OMIM:616155 ORPHA:101010 ORPHA:100991 ORPHA:258 OMIM:618138 ORPHA:298 OMIM:601098 OMIM:618124 OMIM:617017 OMIM:617018 ORPHA:497764 OMIM:256810 ORPHA:3115 ORPHA:251347 OMIM:616924 ORPHA:99939 ORPHA:101085 OMIM:617882 ORPHA:404454 OMIM:210000 ORPHA:352675 OMIM:610245 ORPHA:95433 OMIM:266500 OMIM:618580 ORPHA:64753 ORPHA:35069 ORPHA:459033 OMIM:603041 OMIM:604326 ORPHA:98762 OMIM:600882 ORPHA:504476 ORPHA:329336 OMIM:608611 ORPHA:98 OMIM:604377 OMIM:616719 ORPHA:99949 OMIM:619303 OMIM:613280 OMIM:614707 ORPHA:2822 OMIM:613640 ORPHA:94124 ORPHA:431329 OMIM:615491 ORPHA:435387 ORPHA:95434 OMIM:607596 OMIM:617633
 

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