Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Abnormal pyramidal sign (HP:0007256)help
Parent Node:
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Abnormal superficial reflex (HP:0031828)help
..Starting node
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Babinski sign (HP:0003487)help
Term ID: 3487
Name: Babinski sign
Synonym: Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign
Definition: Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Comments:
Reference: HP:0003487
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent abdominal reflex (HP:0031827) help
..expandAbsent cremaster reflex (HP:0031829) 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:0003487HP:0003487Babinski sign0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0003487HP:0003487Babinski sign0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0003487HP:0003487Babinski sign0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0003487HP:0003487Babinski sign0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0003487HP:0003487Babinski sign0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0003487HP:0003487Babinski sign0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0003487HP:0003487Babinski sign0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0003487HP:0003487Babinski sign0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0003487HP:0003487Babinski sign0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal.88
HP:0003487HP:0003487Babinski sign0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0003487HP:0003487Babinski sign0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040282 - Frequent86
HP:0003487HP:0003487Babinski sign0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0003487HP:0003487Babinski sign0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040282 - Frequent89
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040281 - Very frequent89
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant.89
HP:0003487HP:0003487Babinski sign0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0003487HP:0003487Babinski sign0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0003487HP:0003487Babinski sign0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0003487HP:0003487Babinski sign0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0003487HP:0003487Babinski sign0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0003487HP:0003487Babinski sign0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0003487HP:0003487Babinski sign0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0003487HP:0003487Babinski sign0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0003487HP:0003487Babinski sign0APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0003487HP:0003487Babinski sign0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0003487HP:0003487Babinski sign0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0003487HP:0003487Babinski sign0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040283 - Occasional48
HP:0003487HP:0003487Babinski sign0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0003487HP:0003487Babinski sign0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040281 - Very frequent71
HP:0003487HP:0003487Babinski sign0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040281 - Very frequent100
HP:0003487HP:0003487Babinski sign0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0003487HP:0003487Babinski sign0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040283 - Occasional
HP:0003487HP:0003487Babinski sign0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H1015918305OMIM:300911Parkinsonism with spasticity, X-linkedHP:0040283 - Occasional36
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0003487HP:0003487Babinski sign0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040282 - Frequent36
HP:0003487HP:0003487Babinski sign0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0003487HP:0003487Babinski sign0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0003487HP:0003487Babinski sign0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0003487HP:0003487Babinski sign0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040283 - Occasional9
HP:0003487HP:0003487Babinski sign0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0003487HP:0003487Babinski sign0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0003487HP:0003487Babinski sign0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0003487HP:0003487Babinski sign0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0003487HP:0003487Babinski sign0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003487HP:0003487Babinski sign0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003487HP:0003487Babinski sign0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003487HP:0003487Babinski sign0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0003487HP:0003487Babinski sign0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040281 - Very frequent114
HP:0003487HP:0003487Babinski sign0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0003487HP:0003487Babinski sign0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive.114
HP:0003487HP:0003487Babinski sign0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional56
HP:0003487HP:0003487Babinski sign0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040282 - Frequent449
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0003487HP:0003487Babinski sign0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040281 - Very frequent4
HP:0003487HP:0003487Babinski sign0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003487HP:0003487Babinski sign0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0003487HP:0003487Babinski sign0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0003487HP:0003487Babinski sign0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional11
HP:0003487HP:0003487Babinski sign0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0003487HP:0003487Babinski sign0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0003487HP:0003487Babinski sign0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0003487HP:0003487Babinski sign0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0003487HP:0003487Babinski sign0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0003487HP:0003487Babinski sign0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0003487HP:0003487Babinski sign0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0003487HP:0003487Babinski sign0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040281 - Very frequent1
HP:0003487HP:0003487Babinski sign0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0003487HP:0003487Babinski sign0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0003487HP:0003487Babinski sign0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0003487HP:0003487Babinski sign0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0003487HP:0003487Babinski sign0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0003487HP:0003487Babinski sign0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040281 - Very frequent18
HP:0003487HP:0003487Babinski sign0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive.18
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040281 - Very frequent57
HP:0003487HP:0003487Babinski sign0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003487HP:0003487Babinski sign0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0003487HP:0003487Babinski sign0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0003487HP:0003487Babinski sign0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0003487HP:0003487Babinski sign0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040281 - Very frequent35
HP:0003487HP:0003487Babinski sign0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0003487HP:0003487Babinski sign0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0003487HP:0003487Babinski sign0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0003487HP:0003487Babinski sign0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040283 - Occasional
HP:0003487HP:0003487Babinski sign0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusHP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0003487HP:0003487Babinski sign0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0003487HP:0003487Babinski sign0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0003487HP:0003487Babinski sign0DTYMK CL E G H18413061OMIM:619847
HP:0003487HP:0003487Babinski sign0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040283 - Occasional4
HP:0003487HP:0003487Babinski sign0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0003487HP:0003487Babinski sign0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0003487HP:0003487Babinski sign0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0003487HP:0003487Babinski sign0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0003487HP:0003487Babinski sign0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040282 - Frequent18
HP:0003487HP:0003487Babinski sign0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0003487HP:0003487Babinski sign0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0003487HP:0003487Babinski sign0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0003487HP:0003487Babinski sign0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0003487HP:0003487Babinski sign0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040282 - Frequent7
HP:0003487HP:0003487Babinski sign0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0003487HP:0003487Babinski sign0FARS2 CL E G H1066721062OMIM:617046Spastic paraplegia 77, autosomal recessive.36
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H2579313586OMIM:260300Parkinson disease 15, autosomal recessive early-onset.36
HP:0003487HP:0003487Babinski sign0FBXO7 CL E G H2579313586ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent36
HP:0003487HP:0003487Babinski sign0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0003487HP:0003487Babinski sign0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0003487HP:0003487Babinski sign0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040284 - Very rare33
HP:0003487HP:0003487Babinski sign0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional105
HP:0003487HP:0003487Babinski sign0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040281 - Very frequent18
HP:0003487HP:0003487Babinski sign0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0003487HP:0003487Babinski sign0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0003487HP:0003487Babinski sign0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040283 - Occasional121
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040281 - Very frequent30
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040281 - Very frequent30
HP:0003487HP:0003487Babinski sign0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0003487HP:0003487Babinski sign0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0003487HP:0003487Babinski sign0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0003487HP:0003487Babinski sign0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0003487HP:0003487Babinski sign0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1HP:0040283 - Occasional107
HP:0003487HP:0003487Babinski sign0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040283 - Occasional107
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0003487HP:0003487Babinski sign0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive.37
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0003487HP:0003487Babinski sign0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0003487HP:0003487Babinski sign0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0003487HP:0003487Babinski sign0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0003487HP:0003487Babinski sign0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0003487HP:0003487Babinski sign0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0003487HP:0003487Babinski sign0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0003487HP:0003487Babinski sign0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 13HP:0040282 - Frequent46
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0003487HP:0003487Babinski sign0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant.46
HP:0003487HP:0003487Babinski sign0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0003487HP:0003487Babinski sign0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0003487HP:0003487Babinski sign0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040283 - Occasional16
HP:0003487HP:0003487Babinski sign0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0003487HP:0003487Babinski sign0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0003487HP:0003487Babinski sign0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0003487HP:0003487Babinski sign0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0003487HP:0003487Babinski sign0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0003487HP:0003487Babinski sign0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0003487HP:0003487Babinski sign0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0003487HP:0003487Babinski sign0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040281 - Very frequent276
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0003487HP:0003487Babinski sign0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0003487HP:0003487Babinski sign0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0003487HP:0003487Babinski sign0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0003487HP:0003487Babinski sign0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0003487HP:0003487Babinski sign0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0003487HP:0003487Babinski sign0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003487HP:0003487Babinski sign0LETM1 CL E G H39546556OMIM:6200892
HP:0003487HP:0003487Babinski sign0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0003487HP:0003487Babinski sign0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant.44
HP:0003487HP:0003487Babinski sign0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0003487HP:0003487Babinski sign0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040281 - Very frequent4
HP:0003487HP:0003487Babinski sign0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0003487HP:0003487Babinski sign0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0003487HP:0003487Babinski sign0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0003487HP:0003487Babinski sign0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51HP:0040283 - Occasional4
HP:0003487HP:0003487Babinski sign0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0003487HP:0003487Babinski sign0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003487HP:0003487Babinski sign0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0003487HP:0003487Babinski sign0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0003487HP:0003487Babinski sign0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003487HP:0003487Babinski sign0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0003487HP:0003487Babinski sign0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0003487HP:0003487Babinski sign0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0003487HP:0003487Babinski sign0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0003487HP:0003487Babinski sign0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0003487HP:0003487Babinski sign0NDE1 CL E G H5482017619OMIM:614019Lissencephaly 496
HP:0003487HP:0003487Babinski sign0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0003487HP:0003487Babinski sign0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0003487HP:0003487Babinski sign0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0003487HP:0003487Babinski sign0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003487HP:0003487Babinski sign0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0003487HP:0003487Babinski sign0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H12360617043ORPHA:100988Autosomal dominant spastic paraplegia type 6HP:0040281 - Very frequent117
HP:0003487HP:0003487Babinski sign0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0003487HP:0003487Babinski sign0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0003487HP:0003487Babinski sign0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040281 - Very frequent15
HP:0003487HP:0003487Babinski sign0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0003487HP:0003487Babinski sign0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0003487HP:0003487Babinski sign0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0003487HP:0003487Babinski sign0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0003487HP:0003487Babinski sign0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III.163
HP:0003487HP:0003487Babinski sign0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0003487HP:0003487Babinski sign0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0003487HP:0003487Babinski sign0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0003487HP:0003487Babinski sign0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0003487HP:0003487Babinski sign0PDYN CL E G H51738820ORPHA:101108Spinocerebellar ataxia type 23HP:0040282 - Frequent52
HP:0003487HP:0003487Babinski sign0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0003487HP:0003487Babinski sign0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0003487HP:0003487Babinski sign0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0003487HP:0003487Babinski sign0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0003487HP:0003487Babinski sign0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0003487HP:0003487Babinski sign0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0003487HP:0003487Babinski sign0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0003487HP:0003487Babinski sign0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0003487HP:0003487Babinski sign0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0003487HP:0003487Babinski sign0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0003487HP:0003487Babinski sign0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040281 - Very frequent60
HP:0003487HP:0003487Babinski sign0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39HP:0040282 - Frequent103
HP:0003487HP:0003487Babinski sign0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive.103
HP:0003487HP:0003487Babinski sign0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0003487HP:0003487Babinski sign0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0003487HP:0003487Babinski sign0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0003487HP:0003487Babinski sign0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0003487HP:0003487Babinski sign0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0003487HP:0003487Babinski sign0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0003487HP:0003487Babinski sign0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0003487HP:0003487Babinski sign0PRICKLE1 CL E G H14416517019OMIM:612437Epilepsy, progressive myoclonic 1B.133
HP:0003487HP:0003487Babinski sign0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0003487HP:0003487Babinski sign0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040283 - Occasional49
HP:0003487HP:0003487Babinski sign0PRSS12 CL E G H84929477OMIM:249500Mental retardation, autosomal recessive 1.73
HP:0003487HP:0003487Babinski sign0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0003487HP:0003487Babinski sign0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0003487HP:0003487Babinski sign0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0003487HP:0003487Babinski sign0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0003487HP:0003487Babinski sign0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0003487HP:0003487Babinski sign0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0003487HP:0003487Babinski sign0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0003487HP:0003487Babinski sign0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0003487HP:0003487Babinski sign0REEP2 CL E G H5130817975OMIM:615625Spastic paraplegia 72, autosomal recessive.3
HP:0003487HP:0003487Babinski sign0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2HP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant.3
HP:0003487HP:0003487Babinski sign0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent25
HP:0003487HP:0003487Babinski sign0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0003487HP:0003487Babinski sign0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0003487HP:0003487Babinski sign0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0003487HP:0003487Babinski sign0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0003487HP:0003487Babinski sign0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0003487HP:0003487Babinski sign0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0003487HP:0003487Babinski sign0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003487HP:0003487Babinski sign0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0003487HP:0003487Babinski sign0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0003487HP:0003487Babinski sign0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003487HP:0003487Babinski sign0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003487HP:0003487Babinski sign0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003487HP:0003487Babinski sign0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0003487HP:0003487Babinski sign0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064445ORPHA:357043Amyotrophic lateral sclerosis type 4HP:0040282 - Frequent162
HP:0003487HP:0003487Babinski sign0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0003487HP:0003487Babinski sign0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0003487HP:0003487Babinski sign0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0003487HP:0003487Babinski sign0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0003487HP:0003487Babinski sign0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0003487HP:0003487Babinski sign0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0003487HP:0003487Babinski sign0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 413
HP:0003487HP:0003487Babinski sign0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0003487HP:0003487Babinski sign0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0003487HP:0003487Babinski sign0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0003487HP:0003487Babinski sign0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040281 - Very frequent48
HP:0003487HP:0003487Babinski sign0SLC33A1 CL E G H919795OMIM:612539Spastic paraplegia 42, autosomal dominant.48
HP:0003487HP:0003487Babinski sign0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0003487HP:0003487Babinski sign0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2.5
HP:0003487HP:0003487Babinski sign0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0003487HP:0003487Babinski sign0SNCA CL E G H662211138ORPHA:171695Parkinsonian-pyramidal syndromeHP:0040282 - Frequent65
HP:0003487HP:0003487Babinski sign0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0003487HP:0003487Babinski sign0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0003487HP:0003487Babinski sign0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0003487HP:0003487Babinski sign0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0003487HP:0003487Babinski sign0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0003487HP:0003487Babinski sign0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0003487HP:0003487Babinski sign0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H8020811226OMIM:602099Amyotrophic lateral sclerosis 5, juvenile.287
HP:0003487HP:0003487Babinski sign0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0003487HP:0003487Babinski sign0SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040281 - Very frequent171
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003487HP:0003487Babinski sign0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0003487HP:0003487Babinski sign0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional62
HP:0003487HP:0003487Babinski sign0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0003487HP:0003487Babinski sign0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0003487HP:0003487Babinski sign0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0003487HP:0003487Babinski sign0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 40.7
HP:0003487HP:0003487Babinski sign0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040282 - Frequent7
HP:0003487HP:0003487Babinski sign0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H2343511571OMIM:612069Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia.65
HP:0003487HP:0003487Babinski sign0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional65
HP:0003487HP:0003487Babinski sign0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0003487HP:0003487Babinski sign0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional20
HP:0003487HP:0003487Babinski sign0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040281 - Very frequent18
HP:0003487HP:0003487Babinski sign0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive.18
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0003487HP:0003487Babinski sign0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0003487HP:0003487Babinski sign0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0003487HP:0003487Babinski sign0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15
HP:0003487HP:0003487Babinski sign0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0003487HP:0003487Babinski sign0TMEM63C CL E G H5715623787OMIM:619966
HP:0003487HP:0003487Babinski sign0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0003487HP:0003487Babinski sign0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0003487HP:0003487Babinski sign0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0003487HP:0003487Babinski sign0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0003487HP:0003487Babinski sign0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2FHP:0040283 - Occasional3
HP:0003487HP:0003487Babinski sign0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0003487HP:0003487Babinski sign0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0003487HP:0003487Babinski sign0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0003487HP:0003487Babinski sign0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0003487HP:0003487Babinski sign0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0003487HP:0003487Babinski sign0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2HP:0040283 - Occasional88
HP:0003487HP:0003487Babinski sign0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0003487HP:0003487Babinski sign0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0003487HP:0003487Babinski sign0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040282 - Frequent
HP:0003487HP:0003487Babinski sign0UBAP1 CL E G H5127112461OMIM:618418Spastic paraplegia 80, autosomal dominant.
HP:0003487HP:0003487Babinski sign0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0003487HP:0003487Babinski sign0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0003487HP:0003487Babinski sign0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0003487HP:0003487Babinski sign0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003487HP:0003487Babinski sign0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040283 - Occasional63
HP:0003487HP:0003487Babinski sign0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040280 - Obligate63
HP:0003487HP:0003487Babinski sign0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040281 - Very frequent83
HP:0003487HP:0003487Babinski sign0WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominant.83
HP:0003487HP:0003487Babinski sign0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12HP:0040283 - Occasional149
HP:0003487HP:0003487Babinski sign0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0003487HP:0003487Babinski sign0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0003487HP:0003487Babinski sign0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52


Genes (256) :AAAS AARS1 ABCB7 ABCD1 ABHD12 ABHD16A ACOX1 ADAR ADGRG1 ADPRS AFG3L2 AIFM1 ALDH18A1 ALS2 AMPD2 ANXA11 AP4B1 AP4E1 AP4M1 AP4S1 APOE ARSA ARX ASPA ATG5 ATL1 ATP13A2 ATP6 ATP6AP2 ATP7A ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 B4GALNT1 BICD2 BRAT1 BSCL2 C19ORF12 C9ORF72 CACNA1A CACNA1G CAPN1 CAV1 CCT5 CHCHD10 CHMP2B CHP1 CLDN11 CNP CNTNAP1 COL4A1 COQ2 COX20 CPT1C CTDP1 CTSF CWF19L1 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DDC DDHD1 DDHD2 DEGS1 DKK1 DLAT DNAJC3 DNMT1 DPM3 DSTYK DTYMK EEF2 EIF2AK2 EIF2S3 ELOVL1 ERCC6 ERLIN1 ERLIN2 ETHE1 FA2H FAR1 FARS2 FBXO7 FGF13 FTL FUS FXN GALC GAN GBA2 GCH1 GFAP GFM2 GJB1 GJC2 GLRX5 GPT2 GRIA3 GRID2 HADHA HADHB HPDL HSPD1 HTRA1 HTT HYCC1 IBA57 IMPDH2 IREB2 IRF2BPL JAM2 KCNA1 KCNA4 KDM5C KIF1A KIF1C KIF5A KLC2 KPNA3 KY LARGE1 LETM1 LMNB1 LYRM7 MAG MAN2B1 MCOLN1 MDH2 MECP2 MECR MFN2 MORC2 MPZ MTPAP MTRFR MTTP NDE1 NDUFA4 NDUFS1 NDUFS4 NEFH NEFL NFASC NIPA1 NOP56 NR4A2 NT5C2 NUBPL NUP62 OPA1 OPA3 PANK2 PARS2 PCYT2 PDYN PET117 PEX16 PGAP1 PI4KA PIGA PIGT PIK3R5 PLA2G6 PLAA PLP1 PMP22 PNPLA6 PNPT1 POLG POLR3A POLR3B PRICKLE1 PRNP PRPS1 PRSS12 PSAP PSEN1 PYCR2 REEP1 REEP2 RFC1 RNASEH1 RNF170 RTN2 RUSC2 SACS SAMD9L SDHA SDHAF1 SDHB SDHD SELENOI SEPSECS SETX SHMT2 SIGMAR1 SLC16A2 SLC19A3 SLC1A2 SLC1A4 SLC25A46 SLC2A1 SLC2A3 SLC33A1 SLC39A14 SLC44A1 SNCA SNX14 SOD1 SPART SPAST SPG11 SPG21 SPG7 SQSTM1 STUB1 SYNE1 TAF2 TANGO2 TARDBP TBC1D20 TBK1 TFG TGM6 TH TIMM8A TMEM63A TMEM63C TOR1A TPP1 TREM2 TRMT5 TRNE TSEN15 TSEN2 TSEN34 TSEN54 TSPOAP1 TTC19 TWNK TYROBP UBAP1 UCHL1 UGDH VAMP1 VCP VPS13D WASHC5 WWOX ZFR ZFYVE26 ZFYVE27

Diseases (344) :OMIM:231550 OMIM:619691 OMIM:301310 ORPHA:139399 OMIM:612674 OMIM:619735 OMIM:264470 ORPHA:225154 OMIM:606854 OMIM:618170 OMIM:610246 ORPHA:101109 ORPHA:83629 OMIM:300232 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:601162 OMIM:616586 OMIM:205100 OMIM:606353 OMIM:607225 OMIM:615686 OMIM:619733 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:607822 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:300419 ORPHA:314918 ORPHA:314911 OMIM:617584 ORPHA:100984 OMIM:182600 ORPHA:314632 ORPHA:513436 OMIM:606693 ORPHA:306674 OMIM:617225 ORPHA:320360 ORPHA:644 OMIM:300423 OMIM:300911 ORPHA:93952 ORPHA:363654 OMIM:309400 OMIM:164400 OMIM:603516 ORPHA:98761 OMIM:183090 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 ORPHA:101006 OMIM:609195 OMIM:615290 OMIM:614498 ORPHA:100998 OMIM:619112 OMIM:270685 ORPHA:320370 ORPHA:289560 OMIM:614298 OMIM:615043 ORPHA:275872 ORPHA:98758 OMIM:616795 ORPHA:458803 ORPHA:488594 OMIM:616907 OMIM:606721 ORPHA:139578 OMIM:256840 OMIM:615911 OMIM:600795 OMIM:618438 OMIM:619328 OMIM:619071 OMIM:618186 OMIM:175780 OMIM:146500 OMIM:619054 ORPHA:444099 OMIM:616282 OMIM:604168 OMIM:615362 ORPHA:453521 OMIM:213700 ORPHA:909 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:615281 ORPHA:137898 OMIM:611105 OMIM:608643 ORPHA:101008 OMIM:609340 OMIM:615033 OMIM:618404 ORPHA:268882 ORPHA:79244 OMIM:616192 ORPHA:445062 ORPHA:314404 ORPHA:263494 OMIM:270750 OMIM:619847 ORPHA:101112 OMIM:619687 OMIM:300148 OMIM:618527 OMIM:278800 OMIM:615681 ORPHA:209951 OMIM:611225 OMIM:602473 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:617046 OMIM:260300 ORPHA:171695 OMIM:301058 OMIM:606159 ORPHA:157846 ORPHA:95 OMIM:229300 ORPHA:206448 ORPHA:643 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 OMIM:128230 OMIM:203450 ORPHA:363722 ORPHA:565624 OMIM:302800 ORPHA:1175 OMIM:608804 OMIM:613206 ORPHA:401866 OMIM:616859 ORPHA:477673 ORPHA:364028 OMIM:616204 ORPHA:746 OMIM:619027 ORPHA:100994 OMIM:612233 OMIM:605280 OMIM:600142 ORPHA:399 OMIM:610532 ORPHA:468661 OMIM:616451 OMIM:618451 OMIM:618088 OMIM:618824 OMIM:160120 OMIM:618284 OMIM:300534 ORPHA:101010 OMIM:614255 OMIM:610357 ORPHA:397946 OMIM:611302 ORPHA:100991 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:496689 OMIM:608840 OMIM:620089 ORPHA:99027 OMIM:169500 OMIM:615838 ORPHA:459056 OMIM:616680 OMIM:248500 OMIM:252650 OMIM:617339 OMIM:300055 OMIM:617282 ORPHA:99947 OMIM:609260 ORPHA:466768 OMIM:616688 OMIM:619090 ORPHA:3115 ORPHA:254343 OMIM:613672 ORPHA:320375 OMIM:615035 ORPHA:14 OMIM:614019 OMIM:619065 OMIM:618226 OMIM:252010 OMIM:616924 OMIM:617882 OMIM:618356 ORPHA:100988 OMIM:600363 OMIM:614153 ORPHA:276198 ORPHA:320396 OMIM:613162 OMIM:618242 OMIM:210000 OMIM:258501 OMIM:234200 OMIM:618437 OMIM:618770 OMIM:610245 ORPHA:101108 OMIM:619063 OMIM:614877 ORPHA:401820 OMIM:615802 OMIM:619621 OMIM:301072 OMIM:615398 ORPHA:64753 OMIM:610217 OMIM:617527 ORPHA:280229 OMIM:312920 ORPHA:99015 ORPHA:139480 OMIM:612020 OMIM:608703 ORPHA:101111 OMIM:258450 OMIM:607459 OMIM:607694 ORPHA:447896 OMIM:619742 OMIM:612437 ORPHA:282166 ORPHA:423479 OMIM:249500 OMIM:611721 OMIM:249900 OMIM:616420 OMIM:610250 OMIM:615625 ORPHA:504476 OMIM:616479 OMIM:608984 OMIM:619686 ORPHA:100993 OMIM:604805 OMIM:617773 ORPHA:98 OMIM:270550 OMIM:159550 OMIM:619806 ORPHA:3208 OMIM:252011 OMIM:619259 ORPHA:506353 OMIM:618768 ORPHA:2524 OMIM:602433 ORPHA:357043 OMIM:619121 OMIM:605726 ORPHA:59 OMIM:300523 OMIM:607483 OMIM:617105 OMIM:616657 OMIM:616505 OMIM:606777 ORPHA:171863 OMIM:612539 ORPHA:521406 OMIM:617013 OMIM:618868 ORPHA:397709 OMIM:616354 OMIM:618598 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:602099 OMIM:604360 OMIM:248900 ORPHA:35689 OMIM:607259 ORPHA:99013 OMIM:618093 OMIM:615768 ORPHA:88644 OMIM:615599 ORPHA:397951 ORPHA:480864 OMIM:612069 OMIM:615663 ORPHA:431329 OMIM:615658 OMIM:613908 ORPHA:276193 ORPHA:101150 ORPHA:52368 OMIM:618688 OMIM:619966 OMIM:128100 ORPHA:284324 OMIM:609270 OMIM:618193 OMIM:616539 ORPHA:2596 OMIM:617026 OMIM:612389 OMIM:615157 OMIM:221770 OMIM:618418 OMIM:615491 OMIM:618792 ORPHA:251282 OMIM:613954 ORPHA:329475 OMIM:607317 ORPHA:100989 OMIM:603563 OMIM:614322 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244
 

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