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rapadilino syndrome
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DOID_0050774 |
[A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.] |
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non-syndromic intellectual disability
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DOID_0050889 |
[An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.] |
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X-linked myopathy with excessive autophagy
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DOID_0050760 |
[A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28.] |
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adenylosuccinase lyase deficiency
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DOID_0050762 |
[An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.] |
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Aspergillus fumigatus
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NCBITaxon_746128 |
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obsolete paramyloidosis
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DOID_0050761 |
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leukocyte adhesion deficiency 1
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DOID_0110910 |
[A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3.] |
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cutaneous appendage
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UBERON_0000021 |
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external acoustic meatus
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UBERON_0001352 |
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hereditary spherocytosis type 2
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DOID_0110917 |
[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3.] |
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hereditary spherocytosis type 3
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DOID_0110918 |
[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1.] |
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childhood hypophosphatasia
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DOID_0110915 |
[A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.] |
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hypophosphatasia
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DOID_14213 |
[A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12.] |
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hereditary spherocytosis type 1
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DOID_0110916 |
[A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21.] |
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exocrine pancreas
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UBERON_0000017 |
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adult hypophosphatasia
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DOID_0110913 |
[A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.] |
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infantile hypophosphatasia
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DOID_0110914 |
[A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.] |
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leukocyte adhesion deficiency 3
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DOID_0110912 |
[A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12.] |
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Armfield syndrome
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DOID_0050764 |
[A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28.] |
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choreaacanthocytosis
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DOID_0050766 |
[A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.] |
