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autosomal recessive intellectual developmental disorder 38
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DOID_0081203 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13.] |
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KRT1-related nonepidermolytic palmoplantar keratoderma
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DOID_0070550 |
[A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.] |
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nonepidermolytic palmoplantar keratoderma
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DOID_0050428 |
[A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles.] |
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epidermolytic palmoplantar keratoderma 2
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DOID_0070551 |
[An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13.] |
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epidermolytic palmoplantar keratoderma
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DOID_0080223 |
[A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles.] |
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Cladosporium
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NCBITaxon_5498 |
|
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Cladosporiaceae
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NCBITaxon_452563 |
|
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autosomal recessive intellectual developmental disorder 44
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DOID_0081208 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.] |
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autosomal recessive intellectual developmental disorder 45
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DOID_0081209 |
[An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24.] |
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autosomal recessive spinocerebellar ataxia 34
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DOID_0070558 |
[An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1.] |
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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
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DOID_0070559 |
[A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13.] |
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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
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DOID_0050997 |
[A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.] |
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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
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DOID_0070556 |
[A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2.] |
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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
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DOID_0070557 |
[A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3.] |
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palmoplantar keratoderma and woolly hair
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DOID_0070554 |
[A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.] |
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Nagashima-type palmoplantar keratosis
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DOID_0070555 |
[A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33.] |
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epidermolytic palmoplantar keratoderma 1
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DOID_0070552 |
[An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2.] |
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focal palmoplantar and gingival keratosis
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DOID_0070553 |
[A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva.] |
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weak cry
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SYMP_0000400 |
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wobble
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SYMP_0000401 |
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