| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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nuclear type mitochondrial complex I deficiency 16
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MC1DN16
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A nuclear type mitochondrial complex I deficiency .. [+]A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.
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nuclear type mitochondrial complex I deficiency 33
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MC1DN33
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A nuclear type mitochondrial complex I deficiency .. [+]A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2.
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nuclear type mitochondrial complex I deficiency 30
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MC1DN30
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A nuclear type mitochondrial complex I deficiency .. [+]A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3.
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nuclear type mitochondrial complex I deficiency 12
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MC1DN12
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A nuclear type mitochondrial complex I deficiency .. [+]A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24.
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nuclear type mitochondrial complex I deficiency 35
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MC1DN35
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A nuclear type mitochondrial complex I deficiency .. [+]A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3.
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corpus callosum agenesis-abnormal genitalia syndrome
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microcephaly-corpus callosum agenesis-abnormal gen..
[+]
microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; Proud syndrome; Proud-Levine-Carpenter syndrome
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A syndrome characterized by agenesis of the corpus.. [+]A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
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17-beta hydroxysteroid dehydrogenase 3 deficiency
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male pseudohermaphroditism with gynecomastia; 17-b..
[+]
male pseudohermaphroditism with gynecomastia; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 17-KSR deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; neutral 17-beta-hydroxysteroid oxidoreductase deficiency
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A pseudohermaphroditism characterized by undermasc.. [+]A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22.
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homocystinuria-megaloblastic anemia cblE type
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methylcobalamin deficiency, cblE type; functional ..
[+]
methylcobalamin deficiency, cblE type; functional methionine synthase deficiency type cblE; HMAE; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type; vitamin B12-responsive homocystinuria, cblE type
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31.
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homocystinuria-megaloblastic anemia cblG type
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methylcobalamin deficiency, cblG type; HMAG; homoc..
[+]
methylcobalamin deficiency, cblG type; HMAG; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; homocystinuria-megaloblastic anemia, cblG complementation type
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An amino acid metabolic disorder characterized by .. [+]An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
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spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
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Megarbane-Dagher-Melike type chondrodysplasia; SMD..
[+]
Megarbane-Dagher-Melike type chondrodysplasia; SMDMDM
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A spondylometaphyseal dysplasia that has_material_.. [+]A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3.
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