Human Phenotype Ontology 
Grandparent Node:
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Abnormality of muscle size (HP:0030236)help
Grandparent Node:
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obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
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Skeletal muscle atrophy (HP:0003202)help
..Starting node
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Distal amyotrophy (HP:0003693)help
Term ID: 3693
Name: Distal amyotrophy
Synonym: Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal
Definition: Muscular atrophy affecting muscles in the distal portions of the extremities.
Comments:
Reference: HP:0003693
Genes and Diseases:
 
       Child Nodes:
........expandDistal upper limb amyotrophy (HP:0007149) help
................... HP:0009130 Hand muscle atrophy
........expandInterosseus muscle atrophy (HP:0007181) help
................... HP:0003426 First dorsal interossei muscle atrophy
........expandDistal lower limb amyotrophy (HP:0008944) help
................... HP:0011399 Tibialis atrophy
........expandProgressive distal muscular atrophy (HP:0008955) help

 Sister Nodes: 
..expandGeneralized amyotrophy (HP:0003700) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLower limb amyotrophy (HP:0007210) help
..expandNonprogressive muscular atrophy (HP:0008964) help
..expandPectoralis amyotrophy (HP:0012037) help
..expandPeroneal muscle atrophy (HP:0009049) help
..expandProximal amyotrophy (HP:0007126) help
..expandScapuloperoneal amyotrophy (HP:0003697) help
..expandSpinal muscular atrophy (HP:0007269) help
..expandSternocleidomastoid amyotrophy (HP:0012036) help
..expandUpper limb amyotrophy (HP:0009129) 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:0003693HP:0003693Distal amyotrophy0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003693HP:0003693Distal amyotrophy0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0003693HP:0003693Distal amyotrophy0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0003693HP:0003693Distal amyotrophy0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003693HP:0003693Distal amyotrophy0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0003693HP:0003693Distal amyotrophy0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003693HP:0003693Distal amyotrophy0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0003693HP:0003693Distal amyotrophy0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0003693HP:0003693Distal amyotrophy0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0003693HP:0003693Distal amyotrophy0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003693HP:0003693Distal amyotrophy0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0003693HP:0003693Distal amyotrophy0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent114
HP:0003693HP:0003693Distal amyotrophy0ANG CL E G H283483OMIM:611895Amyotrophic lateral sclerosis 932
HP:0003693HP:0003693Distal amyotrophy0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003693HP:0003693Distal amyotrophy0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0003693HP:0003693Distal amyotrophy0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0003693HP:0003693Distal amyotrophy0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0003693HP:0003693Distal amyotrophy0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0003693HP:0003693Distal amyotrophy0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional71
HP:0003693HP:0003693Distal amyotrophy0ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID.71
HP:0003693HP:0003693Distal amyotrophy0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0003693HP:0003693Distal amyotrophy0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional5
HP:0003693HP:0003693Distal amyotrophy0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD4
HP:0003693HP:0003693Distal amyotrophy0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3.192
HP:0003693HP:0003693Distal amyotrophy0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0003693HP:0003693Distal amyotrophy0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0003693HP:0003693Distal amyotrophy0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0003693HP:0003693Distal amyotrophy0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0003693HP:0003693Distal amyotrophy0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0003693HP:0003693Distal amyotrophy0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0003693HP:0003693Distal amyotrophy0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0003693HP:0003693Distal amyotrophy0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy46
HP:0003693HP:0003693Distal amyotrophy0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0003693HP:0003693Distal amyotrophy0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003693HP:0003693Distal amyotrophy0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003693HP:0003693Distal amyotrophy0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003693HP:0003693Distal amyotrophy0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0003693HP:0003693Distal amyotrophy0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0003693HP:0003693Distal amyotrophy0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0003693HP:0003693Distal amyotrophy0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003693HP:0003693Distal amyotrophy0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0003693HP:0003693Distal amyotrophy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003693HP:0003693Distal amyotrophy0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0003693HP:0003693Distal amyotrophy0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0003693HP:0003693Distal amyotrophy0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0003693HP:0003693Distal amyotrophy0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0003693HP:0003693Distal amyotrophy0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003693HP:0003693Distal amyotrophy0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0003693HP:0003693Distal amyotrophy0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003693HP:0003693Distal amyotrophy0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0003693HP:0003693Distal amyotrophy0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0003693HP:0003693Distal amyotrophy0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003693HP:0003693Distal amyotrophy0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003693HP:0003693Distal amyotrophy0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0003693HP:0003693Distal amyotrophy0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0003693HP:0003693Distal amyotrophy0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0003693HP:0003693Distal amyotrophy0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0003693HP:0003693Distal amyotrophy0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0003693HP:0003693Distal amyotrophy0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0003693HP:0003693Distal amyotrophy0DNM2 CL E G H17852974OMIM:606482Charcot-Marie-Tooth disease, dominant intermediate B167
HP:0003693HP:0003693Distal amyotrophy0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003693HP:0003693Distal amyotrophy0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset.600
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0003693HP:0003693Distal amyotrophy0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0003693HP:0003693Distal amyotrophy0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003693HP:0003693Distal amyotrophy0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0003693HP:0003693Distal amyotrophy0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003693HP:0003693Distal amyotrophy0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003693HP:0003693Distal amyotrophy0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4197
HP:0003693HP:0003693Distal amyotrophy0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040281 - Very frequent
HP:0003693HP:0003693Distal amyotrophy0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent105
HP:0003693HP:0003693Distal amyotrophy0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0003693HP:0003693Distal amyotrophy0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0003693HP:0003693Distal amyotrophy0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0003693HP:0003693Distal amyotrophy0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003693HP:0003693Distal amyotrophy0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003693HP:0003693Distal amyotrophy0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003693HP:0003693Distal amyotrophy0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003693HP:0003693Distal amyotrophy0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040283 - Occasional30
HP:0003693HP:0003693Distal amyotrophy0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0003693HP:0003693Distal amyotrophy0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0003693HP:0003693Distal amyotrophy0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003693HP:0003693Distal amyotrophy0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003693HP:0003693Distal amyotrophy0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0003693HP:0003693Distal amyotrophy0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0003693HP:0003693Distal amyotrophy0GNE CL E G H1002023657OMIM:605820Nonaka myopathy.173
HP:0003693HP:0003693Distal amyotrophy0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003693HP:0003693Distal amyotrophy0HARS1 CL E G H30354816OMIM:616625Charcot-Marie-Tooth disease, axonal, type 2W
HP:0003693HP:0003693Distal amyotrophy0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003693HP:0003693Distal amyotrophy0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0003693HP:0003693Distal amyotrophy0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0003693HP:0003693Distal amyotrophy0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0003693HP:0003693Distal amyotrophy0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003693HP:0003693Distal amyotrophy0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0003693HP:0003693Distal amyotrophy0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0003693HP:0003693Distal amyotrophy0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003693HP:0003693Distal amyotrophy0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0003693HP:0003693Distal amyotrophy0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0003693HP:0003693Distal amyotrophy0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003693HP:0003693Distal amyotrophy0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0003693HP:0003693Distal amyotrophy0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0003693HP:0003693Distal amyotrophy0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0003693HP:0003693Distal amyotrophy0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0003693HP:0003693Distal amyotrophy0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040282 - Frequent276
HP:0003693HP:0003693Distal amyotrophy0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003693HP:0003693Distal amyotrophy0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0003693HP:0003693Distal amyotrophy0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0003693HP:0003693Distal amyotrophy0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0003693HP:0003693Distal amyotrophy0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0003693HP:0003693Distal amyotrophy0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0003693HP:0003693Distal amyotrophy0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040281 - Very frequent1
HP:0003693HP:0003693Distal amyotrophy0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0003693HP:0003693Distal amyotrophy0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0003693HP:0003693Distal amyotrophy0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0003693HP:0003693Distal amyotrophy0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003693HP:0003693Distal amyotrophy0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0003693HP:0003693Distal amyotrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003693HP:0003693Distal amyotrophy0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0003693HP:0003693Distal amyotrophy0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0003693HP:0003693Distal amyotrophy0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0003693HP:0003693Distal amyotrophy0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0003693HP:0003693Distal amyotrophy0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0003693HP:0003693Distal amyotrophy0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0003693HP:0003693Distal amyotrophy0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003693HP:0003693Distal amyotrophy0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0003693HP:0003693Distal amyotrophy0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0003693HP:0003693Distal amyotrophy0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003693HP:0003693Distal amyotrophy0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0003693HP:0003693Distal amyotrophy0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0003693HP:0003693Distal amyotrophy0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0003693HP:0003693Distal amyotrophy0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0003693HP:0003693Distal amyotrophy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0003693HP:0003693Distal amyotrophy0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003693HP:0003693Distal amyotrophy0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0003693HP:0003693Distal amyotrophy0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0003693HP:0003693Distal amyotrophy0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0003693HP:0003693Distal amyotrophy0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0003693HP:0003693Distal amyotrophy0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0003693HP:0003693Distal amyotrophy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0003693HP:0003693Distal amyotrophy0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003693HP:0003693Distal amyotrophy0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0003693HP:0003693Distal amyotrophy0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003693HP:0003693Distal amyotrophy0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0003693HP:0003693Distal amyotrophy0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040282 - Frequent75
HP:0003693HP:0003693Distal amyotrophy0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0003693HP:0003693Distal amyotrophy0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0003693HP:0003693Distal amyotrophy0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0003693HP:0003693Distal amyotrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0003693HP:0003693Distal amyotrophy0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0003693HP:0003693Distal amyotrophy0NEMF CL E G H914710663OMIM:619099INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN1
HP:0003693HP:0003693Distal amyotrophy0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003693HP:0003693Distal amyotrophy0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003693HP:0003693Distal amyotrophy0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003693HP:0003693Distal amyotrophy0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0003693HP:0003693Distal amyotrophy0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6BHP:0040283 - Occasional75
HP:0003693HP:0003693Distal amyotrophy0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003693HP:0003693Distal amyotrophy0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0003693HP:0003693Distal amyotrophy0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0003693HP:0003693Distal amyotrophy0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0003693HP:0003693Distal amyotrophy0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0003693HP:0003693Distal amyotrophy0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0003693HP:0003693Distal amyotrophy0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0003693HP:0003693Distal amyotrophy0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0003693HP:0003693Distal amyotrophy0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0003693HP:0003693Distal amyotrophy0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0003693HP:0003693Distal amyotrophy0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0003693HP:0003693Distal amyotrophy0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0003693HP:0003693Distal amyotrophy0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0003693HP:0003693Distal amyotrophy0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 5.49
HP:0003693HP:0003693Distal amyotrophy0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0003693HP:0003693Distal amyotrophy0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0003693HP:0003693Distal amyotrophy0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040281 - Very frequent6
HP:0003693HP:0003693Distal amyotrophy0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0003693HP:0003693Distal amyotrophy0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0003693HP:0003693Distal amyotrophy0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003693HP:0003693Distal amyotrophy0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB.87
HP:0003693HP:0003693Distal amyotrophy0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0003693HP:0003693Distal amyotrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0003693HP:0003693Distal amyotrophy0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0003693HP:0003693Distal amyotrophy0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0003693HP:0003693Distal amyotrophy0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0003693HP:0003693Distal amyotrophy0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0003693HP:0003693Distal amyotrophy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003693HP:0003693Distal amyotrophy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003693HP:0003693Distal amyotrophy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003693HP:0003693Distal amyotrophy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003693HP:0003693Distal amyotrophy0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0003693HP:0003693Distal amyotrophy0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0003693HP:0003693Distal amyotrophy0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0003693HP:0003693Distal amyotrophy0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0003693HP:0003693Distal amyotrophy0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent6
HP:0003693HP:0003693Distal amyotrophy0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0003693HP:0003693Distal amyotrophy0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003693HP:0003693Distal amyotrophy0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003693HP:0003693Distal amyotrophy0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0003693HP:0003693Distal amyotrophy0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003693HP:0003693Distal amyotrophy0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0003693HP:0003693Distal amyotrophy0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0003693HP:0003693Distal amyotrophy0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0003693HP:0003693Distal amyotrophy0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0003693HP:0003693Distal amyotrophy0SLC5A6 CL E G H888411041OMIM:619903
HP:0003693HP:0003693Distal amyotrophy0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0003693HP:0003693Distal amyotrophy0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0003693HP:0003693Distal amyotrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003693HP:0003693Distal amyotrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003693HP:0003693Distal amyotrophy0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003693HP:0003693Distal amyotrophy0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0003693HP:0003693Distal amyotrophy0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040283 - Occasional66
HP:0003693HP:0003693Distal amyotrophy0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0003693HP:0003693Distal amyotrophy0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040283 - Occasional208
HP:0003693HP:0003693Distal amyotrophy0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0003693HP:0003693Distal amyotrophy0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040283 - Occasional287
HP:0003693HP:0003693Distal amyotrophy0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent287
HP:0003693HP:0003693Distal amyotrophy0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0003693HP:0003693Distal amyotrophy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0003693HP:0003693Distal amyotrophy0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional54
HP:0003693HP:0003693Distal amyotrophy0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040281 - Very frequent54
HP:0003693HP:0003693Distal amyotrophy0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional149
HP:0003693HP:0003693Distal amyotrophy0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0003693HP:0003693Distal amyotrophy0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0003693HP:0003693Distal amyotrophy0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0003693HP:0003693Distal amyotrophy0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0003693HP:0003693Distal amyotrophy0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0003693HP:0003693Distal amyotrophy0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040281 - Very frequent52
HP:0003693HP:0003693Distal amyotrophy0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0003693HP:0003693Distal amyotrophy0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003693HP:0003693Distal amyotrophy0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0003693HP:0003693Distal amyotrophy0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0003693HP:0003693Distal amyotrophy0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 5718
HP:0003693HP:0003693Distal amyotrophy0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0003693HP:0003693Distal amyotrophy0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0003693HP:0003693Distal amyotrophy0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0003693HP:0003693Distal amyotrophy0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0003693HP:0003693Distal amyotrophy0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0003693HP:0003693Distal amyotrophy0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0003693HP:0003693Distal amyotrophy0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0003693HP:0003693Distal amyotrophy0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H5934118083ORPHA:1216Autosomal dominant congenital benign spinal muscular atrophyHP:0040281 - Very frequent214
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0003693HP:0003693Distal amyotrophy0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0003693HP:0003693Distal amyotrophy0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0003693HP:0003693Distal amyotrophy0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003693HP:0003693Distal amyotrophy0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0003693HP:0003693Distal amyotrophy0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0003693HP:0003693Distal amyotrophy0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0003693HP:0003693Distal amyotrophy0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0003693HP:0003693Distal amyotrophy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003693HP:0003693Distal amyotrophy0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0003693HP:0003693Distal amyotrophy0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0003693HP:0003693Distal amyotrophy0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0003693HP:0003693Distal amyotrophy0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0003693HP:0003693Distal amyotrophy0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0003693HP:0003693Distal amyotrophy0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0003693HP:0003693Distal amyotrophy0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040281 - Very frequent19
HP:0003693HP:0003693Distal amyotrophy0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0003693HP:0003693Distal amyotrophy0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0003693HP:0003693Distal amyotrophy0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0003693HP:0008944Distal lower limb amyotrophy1AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003693HP:0007149Distal upper limb amyotrophy1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003693HP:0008944Distal lower limb amyotrophy1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003693HP:0007149Distal upper limb amyotrophy1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0003693HP:0008944Distal lower limb amyotrophy1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0003693HP:0008955Progressive distal muscular atrophy1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0003693HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040282 - Frequent71
HP:0003693HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H5106211231OMIM:613708Neuropathy, hereditary sensory, type ID71
HP:0003693HP:0008944Distal lower limb amyotrophy1ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040283 - Occasional14
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040283 - Occasional14
HP:0003693HP:0008944Distal lower limb amyotrophy1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040281 - Very frequent14
HP:0003693HP:0008944Distal lower limb amyotrophy1BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0003693HP:0007149Distal upper limb amyotrophy1BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0003693HP:0007149Distal upper limb amyotrophy1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003693HP:0007181Interosseus muscle atrophy1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003693HP:0008944Distal lower limb amyotrophy1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003693HP:0007149Distal upper limb amyotrophy1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003693HP:0007181Interosseus muscle atrophy1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0003693HP:0007149Distal upper limb amyotrophy1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0003693HP:0007149Distal upper limb amyotrophy1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003693HP:0008944Distal lower limb amyotrophy1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003693HP:0007149Distal upper limb amyotrophy1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0003693HP:0007149Distal upper limb amyotrophy1CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003693HP:0007149Distal upper limb amyotrophy1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040281 - Very frequent
HP:0003693HP:0007149Distal upper limb amyotrophy1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003693HP:0007149Distal upper limb amyotrophy1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003693HP:0007149Distal upper limb amyotrophy1COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003693HP:0007149Distal upper limb amyotrophy1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040281 - Very frequent
HP:0003693HP:0008944Distal lower limb amyotrophy1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0003693HP:0008944Distal lower limb amyotrophy1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0003693HP:0007149Distal upper limb amyotrophy1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0003693HP:0007149Distal upper limb amyotrophy1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003693HP:0008944Distal lower limb amyotrophy1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003693HP:0007149Distal upper limb amyotrophy1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003693HP:0008944Distal lower limb amyotrophy1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003693HP:0007149Distal upper limb amyotrophy1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003693HP:0008944Distal lower limb amyotrophy1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003693HP:0007149Distal upper limb amyotrophy1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003693HP:0008944Distal lower limb amyotrophy1FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0003693HP:0007149Distal upper limb amyotrophy1FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0003693HP:0008944Distal lower limb amyotrophy1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0003693HP:0007149Distal upper limb amyotrophy1FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0003693HP:0007149Distal upper limb amyotrophy1FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0003693HP:0007149Distal upper limb amyotrophy1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003693HP:0007181Interosseus muscle atrophy1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003693HP:0007181Interosseus muscle atrophy1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003693HP:0007149Distal upper limb amyotrophy1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003693HP:0007149Distal upper limb amyotrophy1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003693HP:0007181Interosseus muscle atrophy1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003693HP:0007149Distal upper limb amyotrophy1GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K108
HP:0003693HP:0007149Distal upper limb amyotrophy1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003693HP:0008944Distal lower limb amyotrophy1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003693HP:0007149Distal upper limb amyotrophy1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003693HP:0007149Distal upper limb amyotrophy1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003693HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003693HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040281 - Very frequent107
HP:0003693HP:0007149Distal upper limb amyotrophy1GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040281 - Very frequent107
HP:0003693HP:0008944Distal lower limb amyotrophy1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0003693HP:0007149Distal upper limb amyotrophy1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003693HP:0008944Distal lower limb amyotrophy1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003693HP:0007149Distal upper limb amyotrophy1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003693HP:0008944Distal lower limb amyotrophy1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003693HP:0007149Distal upper limb amyotrophy1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003693HP:0008944Distal lower limb amyotrophy1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003693HP:0007149Distal upper limb amyotrophy1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003693HP:0007149Distal upper limb amyotrophy1INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0003693HP:0008944Distal lower limb amyotrophy1INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0003693HP:0007149Distal upper limb amyotrophy1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003693HP:0007149Distal upper limb amyotrophy1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0003693HP:0007149Distal upper limb amyotrophy1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0003693HP:0008944Distal lower limb amyotrophy1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0003693HP:0007149Distal upper limb amyotrophy1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003693HP:0008944Distal lower limb amyotrophy1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040281 - Very frequent93
HP:0003693HP:0008944Distal lower limb amyotrophy1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0003693HP:0007149Distal upper limb amyotrophy1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0003693HP:0008944Distal lower limb amyotrophy1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0003693HP:0008944Distal lower limb amyotrophy1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0003693HP:0007149Distal upper limb amyotrophy1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003693HP:0007149Distal upper limb amyotrophy1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003693HP:0008944Distal lower limb amyotrophy1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003693HP:0008944Distal lower limb amyotrophy1MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040281 - Very frequent4
HP:0003693HP:0008944Distal lower limb amyotrophy1MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0003693HP:0007149Distal upper limb amyotrophy1MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003693HP:0007149Distal upper limb amyotrophy1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040283 - Occasional80
HP:0003693HP:0008944Distal lower limb amyotrophy1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003693HP:0008944Distal lower limb amyotrophy1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0003693HP:0007149Distal upper limb amyotrophy1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003693HP:0007149Distal upper limb amyotrophy1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0003693HP:0008944Distal lower limb amyotrophy1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003693HP:0008944Distal lower limb amyotrophy1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003693HP:0007149Distal upper limb amyotrophy1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003693HP:0008944Distal lower limb amyotrophy1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0003693HP:0007149Distal upper limb amyotrophy1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0003693HP:0007149Distal upper limb amyotrophy1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003693HP:0007149Distal upper limb amyotrophy1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003693HP:0007149Distal upper limb amyotrophy1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003693HP:0008944Distal lower limb amyotrophy1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003693HP:0008944Distal lower limb amyotrophy1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0003693HP:0007149Distal upper limb amyotrophy1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0003693HP:0007149Distal upper limb amyotrophy1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003693HP:0008944Distal lower limb amyotrophy1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0003693HP:0007149Distal upper limb amyotrophy1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0003693HP:0008955Progressive distal muscular atrophy1PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0003693HP:0007149Distal upper limb amyotrophy1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0003693HP:0008944Distal lower limb amyotrophy1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003693HP:0007149Distal upper limb amyotrophy1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003693HP:0007181Interosseus muscle atrophy1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003693HP:0008944Distal lower limb amyotrophy1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0003693HP:0007149Distal upper limb amyotrophy1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003693HP:0008944Distal lower limb amyotrophy1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0003693HP:0007181Interosseus muscle atrophy1SLC5A6 CL E G H888411041OMIM:619903
HP:0003693HP:0007149Distal upper limb amyotrophy1SLC5A6 CL E G H888411041OMIM:619903
HP:0003693HP:0007149Distal upper limb amyotrophy1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0003693HP:0007149Distal upper limb amyotrophy1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0003693HP:0007149Distal upper limb amyotrophy1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0003693HP:0008944Distal lower limb amyotrophy1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003693HP:0008944Distal lower limb amyotrophy1TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040281 - Very frequent18
HP:0003693HP:0007149Distal upper limb amyotrophy1TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0003693HP:0007149Distal upper limb amyotrophy1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0003693HP:0007149Distal upper limb amyotrophy1TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0003693HP:0007149Distal upper limb amyotrophy1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0003693HP:0007181Interosseus muscle atrophy1TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0003693HP:0008944Distal lower limb amyotrophy1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0003693HP:0008944Distal lower limb amyotrophy1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0003693HP:0008944Distal lower limb amyotrophy1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003693HP:0007149Distal upper limb amyotrophy1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003693HP:0008955Progressive distal muscular atrophy1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0003693HP:0008944Distal lower limb amyotrophy1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0003693HP:0007149Distal upper limb amyotrophy1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0003693HP:0007149Distal upper limb amyotrophy1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003693HP:0008944Distal lower limb amyotrophy1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0003693HP:0009130Hand muscle atrophy2ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0003693HP:0009130Hand muscle atrophy2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0003693HP:0009130Hand muscle atrophy2BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0003693HP:0003426First dorsal interossei muscle atrophy2BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003693HP:0009130Hand muscle atrophy2BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003693HP:0009130Hand muscle atrophy2BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003693HP:0009130Hand muscle atrophy2BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0003693HP:0003426First dorsal interossei muscle atrophy2BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003693HP:0009130Hand muscle atrophy2CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0003693HP:0009130Hand muscle atrophy2CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003693HP:0009130Hand muscle atrophy2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003693HP:0009130Hand muscle atrophy2CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003693HP:0009130Hand muscle atrophy2COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003693HP:0009130Hand muscle atrophy2DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0003693HP:0009130Hand muscle atrophy2DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003693HP:0011399Tibialis anterior muscle atrophy2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003693HP:0009130Hand muscle atrophy2FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003693HP:0009130Hand muscle atrophy2FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0003693HP:0009130Hand muscle atrophy2FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040281 - Very frequent18
HP:0003693HP:0009130Hand muscle atrophy2GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003693HP:0009130Hand muscle atrophy2GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003693HP:0003426First dorsal interossei muscle atrophy2GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003693HP:0009130Hand muscle atrophy2GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003693HP:0009130Hand muscle atrophy2GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0003693HP:0009130Hand muscle atrophy2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003693HP:0009130Hand muscle atrophy2HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003693HP:0009130Hand muscle atrophy2HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003693HP:0009130Hand muscle atrophy2HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003693HP:0009130Hand muscle atrophy2IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003693HP:0009130Hand muscle atrophy2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003693HP:0009130Hand muscle atrophy2KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0003693HP:0009130Hand muscle atrophy2KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0003693HP:0009130Hand muscle atrophy2KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003693HP:0009130Hand muscle atrophy2KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0003693HP:0009130Hand muscle atrophy2LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003693HP:0009130Hand muscle atrophy2LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003693HP:0009130Hand muscle atrophy2MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003693HP:0009130Hand muscle atrophy2MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003693HP:0009130Hand muscle atrophy2MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0003693HP:0011399Tibialis anterior muscle atrophy2MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003693HP:0011399Tibialis anterior muscle atrophy2MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003693HP:0009130Hand muscle atrophy2NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003693HP:0009130Hand muscle atrophy2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0003693HP:0009130Hand muscle atrophy2NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003693HP:0009130Hand muscle atrophy2NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003693HP:0009130Hand muscle atrophy2PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0003693HP:0009130Hand muscle atrophy2PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0003693HP:0009130Hand muscle atrophy2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0003693HP:0009130Hand muscle atrophy2PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0003693HP:0009130Hand muscle atrophy2PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0003693HP:0003426First dorsal interossei muscle atrophy2REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003693HP:0009130Hand muscle atrophy2REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003693HP:0011399Tibialis anterior muscle atrophy2RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0003693HP:0009130Hand muscle atrophy2RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0003693HP:0009130Hand muscle atrophy2SLC12A6 CL E G H999010914OMIM:620068163
HP:0003693HP:0009130Hand muscle atrophy2SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003693HP:0009130Hand muscle atrophy2SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0003693HP:0009130Hand muscle atrophy2SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0003693HP:0009130Hand muscle atrophy2SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0003693HP:0009130Hand muscle atrophy2SLC5A6 CL E G H888411041OMIM:619903
HP:0003693HP:0009130Hand muscle atrophy2SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0003693HP:0009130Hand muscle atrophy2SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0003693HP:0009130Hand muscle atrophy2SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0003693HP:0009130Hand muscle atrophy2TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0003693HP:0009130Hand muscle atrophy2TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0003693HP:0009130Hand muscle atrophy2TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0003693HP:0009130Hand muscle atrophy2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0003693HP:0009130Hand muscle atrophy2VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0003693HP:0009130Hand muscle atrophy2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0003693HP:0003393Thenar muscle atrophy3BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003693HP:0003393Thenar muscle atrophy3BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003693HP:0003393Thenar muscle atrophy3BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003693HP:0008954Intrinsic hand muscle atrophy3CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0003693HP:0008954Intrinsic hand muscle atrophy3CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0003693HP:0008954Intrinsic hand muscle atrophy3CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003693HP:0008954Intrinsic hand muscle atrophy3CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003693HP:0003393Thenar muscle atrophy3COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0003693HP:0008954Intrinsic hand muscle atrophy3DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040283 - Occasional600
HP:0003693HP:0008954Intrinsic hand muscle atrophy3FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0003693HP:0003393Thenar muscle atrophy3GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003693HP:0003393Thenar muscle atrophy3GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003693HP:0003393Thenar muscle atrophy3GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003693HP:0003393Thenar muscle atrophy3GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003693HP:0008954Intrinsic hand muscle atrophy3GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003693HP:0008954Intrinsic hand muscle atrophy3HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0003693HP:0008954Intrinsic hand muscle atrophy3HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003693HP:0008954Intrinsic hand muscle atrophy3HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003693HP:0003393Thenar muscle atrophy3IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0003693HP:0008954Intrinsic hand muscle atrophy3JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003693HP:0008954Intrinsic hand muscle atrophy3KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003693HP:0008954Intrinsic hand muscle atrophy3KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0003693HP:0008954Intrinsic hand muscle atrophy3LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040282 - Frequent286
HP:0003693HP:0008954Intrinsic hand muscle atrophy3MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003693HP:0008954Intrinsic hand muscle atrophy3MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0003693HP:0003393Thenar muscle atrophy3NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003693HP:0008954Intrinsic hand muscle atrophy3NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003693HP:0003393Thenar muscle atrophy3PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040282 - Frequent4
HP:0003693HP:0003393Thenar muscle atrophy3PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0003693HP:0008954Intrinsic hand muscle atrophy3PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0003693HP:0008954Intrinsic hand muscle atrophy3PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0003693HP:0003393Thenar muscle atrophy3REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003693HP:0008954Intrinsic hand muscle atrophy3RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0003693HP:0008954Intrinsic hand muscle atrophy3SLC12A6 CL E G H999010914OMIM:620068163
HP:0003693HP:0003393Thenar muscle atrophy3SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0003693HP:0003393Thenar muscle atrophy3SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent24
HP:0003693HP:0003393Thenar muscle atrophy3SLC5A6 CL E G H888411041OMIM:619903
HP:0003693HP:0003393Thenar muscle atrophy3SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0003693HP:0008954Intrinsic hand muscle atrophy3SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0003693HP:0008954Intrinsic hand muscle atrophy3SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0003693HP:0008954Intrinsic hand muscle atrophy3TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0003693HP:0008954Intrinsic hand muscle atrophy3TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0003693HP:0008954Intrinsic hand muscle atrophy3VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63


Genes (187) :AARS1 ABCA1 ABHD12 ACTA1 ACTN2 ADSS1 AFG3L2 AGL AGRN ALS2 ANG ANO5 APTX ASAH1 ATAD3A ATL1 ATL3 ATP1A1 ATP7A ATXN1 ATXN2 ATXN3 B4GALNT1 BICD2 BSCL2 C19ORF12 CADM3 CAV3 CCT5 CEP126 CHAT CHCHD10 CHP1 CHRNA1 COA7 COASY COL13A1 COMP CPLANE1 CPT1C CUL4B CYP27A1 DCAF8 DCTN1 DNM2 DOK7 DYSF EGR2 FBLN5 FGD4 FLNC FLRT1 FUS FUZ FXN GAN GARS1 GBA2 GBF1 GDAP1 GIPC1 GJB1 GNE HARS1 HINT1 HK1 HSPB1 HSPB3 HSPB8 IBA57 IDUA IGHMBP2 INF2 JAG1 JPH1 KANSL1 KDM5C KIF1A KIF1B KIF1C KIF5A KLC2 KLHL9 KRT14 KRT5 LDB3 LITAF LMNA LRP12 LRSAM1 MAG MARS1 MATR3 MED25 MFN2 MME MORC2 MPV17 MPZ MRE11 MSTO1 MTMR2 MTRFR MYH14 MYH7 MYO9A MYOT NDRG1 NDUFA9 NEB NEFL NEMF NGLY1 NOTCH2NLC PDK3 PEX10 PHKA1 PIK3R5 PLEKHG5 PLOD3 PMP2 PMP22 PNKP PNPLA6 POLG PRPS1 PRX PTRH2 RAB7A RAI1 REEP1 RYR1 SACS SBF2 SDHA SDHAF1 SDHB SDHD SETX SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A21 SLC25A46 SLC39A13 SLC52A3 SLC5A6 SLC5A7 SMN1 SMN2 SNAP25 SOX10 SPART SPAST SPG11 SPTBN4 SPTLC1 SPTLC2 SQSTM1 STUB1 SVBP SYT2 TBCE TCAP TDP1 TFG TIA1 TIMM8A TNR TOR1AIP1 TPM3 TRNE TRPV4 TYMP VAMP1 VAPB VCP VPS13A VPS13D VRK1 YARS1 YY1 ZBTB20 ZC4H2 ZFYVE26

Diseases (248) :OMIM:613287 OMIM:205400 OMIM:612674 OMIM:616852 OMIM:618655 ORPHA:482601 OMIM:617030 ORPHA:313772 OMIM:232400 ORPHA:98914 OMIM:205100 ORPHA:300605 OMIM:611895 ORPHA:399096 OMIM:208920 OMIM:159950 OMIM:617183 ORPHA:100984 ORPHA:36386 OMIM:613708 OMIM:182600 OMIM:618036 OMIM:300489 OMIM:164400 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:609195 ORPHA:363454 ORPHA:100998 ORPHA:139536 OMIM:619112 OMIM:270685 ORPHA:320370 OMIM:614298 OMIM:615043 OMIM:619519 ORPHA:488650 OMIM:614321 ORPHA:139578 OMIM:256840 ORPHA:65684 ORPHA:276435 OMIM:618438 OMIM:601462 OMIM:618387 OMIM:615643 OMIM:619161 ORPHA:444099 OMIM:300354 ORPHA:909 OMIM:610100 OMIM:607641 OMIM:606482 OMIM:254300 ORPHA:178400 OMIM:254130 ORPHA:45448 OMIM:606768 OMIM:607678 OMIM:145900 OMIM:605253 OMIM:619764 OMIM:608895 OMIM:609311 ORPHA:63273 OMIM:614065 ORPHA:320406 ORPHA:1136 ORPHA:95 OMIM:256850 OMIM:601472 OMIM:600794 OMIM:619042 ORPHA:352641 OMIM:606483 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:608340 OMIM:214400 ORPHA:98897 OMIM:302800 ORPHA:101075 ORPHA:1175 OMIM:605820 ORPHA:488333 OMIM:616625 ORPHA:324442 ORPHA:99953 ORPHA:99940 OMIM:606595 OMIM:613376 OMIM:608673 ORPHA:468661 OMIM:607015 OMIM:604320 OMIM:614455 OMIM:619574 ORPHA:363958 ORPHA:363965 OMIM:300534 ORPHA:101010 OMIM:614213 OMIM:118210 ORPHA:397946 OMIM:611302 ORPHA:100991 OMIM:609541 ORPHA:399081 ORPHA:79396 ORPHA:98912 OMIM:601098 ORPHA:98856 OMIM:605588 OMIM:181350 OMIM:164310 OMIM:614436 ORPHA:459056 OMIM:616680 OMIM:616280 ORPHA:600 OMIM:605589 ORPHA:99947 OMIM:609260 OMIM:601152 OMIM:617018 ORPHA:497764 ORPHA:466768 OMIM:616688 OMIM:618400 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:618184 ORPHA:3115 OMIM:180800 OMIM:604391 OMIM:617675 OMIM:601382 ORPHA:254930 OMIM:615035 OMIM:614369 OMIM:160500 ORPHA:98911 OMIM:609200 OMIM:601455 OMIM:618247 OMIM:256030 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 OMIM:619099 OMIM:615273 OMIM:619473 ORPHA:352675 OMIM:614871 OMIM:300559 OMIM:615217 OMIM:615376 OMIM:611067 OMIM:612394 OMIM:618279 OMIM:118300 ORPHA:90658 OMIM:118220 ORPHA:459033 OMIM:215470 OMIM:275400 OMIM:612020 OMIM:603041 OMIM:311070 OMIM:614895 ORPHA:456312 OMIM:600882 ORPHA:477817 OMIM:614751 OMIM:610250 ORPHA:98905 ORPHA:178145 ORPHA:98 OMIM:270550 OMIM:604563 ORPHA:3208 OMIM:602433 OMIM:606002 ORPHA:99949 OMIM:601596 OMIM:605726 OMIM:620068 OMIM:618811 OMIM:616505 OMIM:612350 ORPHA:157965 OMIM:211530 OMIM:619903 OMIM:158580 OMIM:253400 OMIM:609136 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:602099 ORPHA:2822 OMIM:604360 OMIM:617519 ORPHA:603 ORPHA:412057 OMIM:618569 OMIM:616040 ORPHA:496756 OMIM:617207 OMIM:601954 ORPHA:94124 OMIM:607250 ORPHA:431329 OMIM:615658 OMIM:604454 OMIM:304700 OMIM:619653 OMIM:617072 OMIM:609284 ORPHA:2596 ORPHA:1216 OMIM:606071 OMIM:181405 OMIM:600175 OMIM:608627 OMIM:182980 ORPHA:329478 ORPHA:435387 OMIM:167320 ORPHA:2388 OMIM:607317 OMIM:607596 OMIM:608323 ORPHA:506358 OMIM:259050 ORPHA:3454 OMIM:314580 ORPHA:100996 OMIM:270700
 

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