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autosomal recessive cutis laxa type IC
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DOID_0070139 |
[A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.] |
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autosomal dominant cutis laxa 2
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DOID_0070136 |
[An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.] |
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congenital diarrhea 6
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DOID_0060780 |
[A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12.] |
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congenital diarrhea
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DOID_0060774 |
[A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth.] |
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autosomal recessive cutis laxa type IIB
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DOID_0070137 |
[A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.] |
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congenital secretory sodium diarrhea 3
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DOID_0060781 |
[A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13.] |
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secretory diarrhea
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DOID_0050129 |
[A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.] |
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autosomal recessive cutis laxa type IIA
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DOID_0070134 |
[An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.] |
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autosomal recessive cutis laxa type IA
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DOID_0070135 |
[An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.] |
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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
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DOID_0060783 |
[An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.] |
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oculocutaneous albinism type VII
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DOID_0070100 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3.] |
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oculocutaneous albinism
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DOID_0050632 |
[A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.] |
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anterior vena cava
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UBERON_0001585 |
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vena cava
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UBERON_0004087 |
|
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obsolete Noonan syndrome 7
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DOID_0070107 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the BRAF gene on chromosome 7q34.] |
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obsolete Noonan syndrome 8
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DOID_0070108 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RIT1 gene on chromosome 1q22.] |
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obsolete Noonan syndrome 5
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DOID_0070105 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the RAF1 gene on chromosome 3p25.2.] |
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obsolete Noonan syndrome 6
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DOID_0070106 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the NRAS gene on chromosome 1p13.2.] |
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olfactory nerve
|
UBERON_0001579 |
|
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obsolete Noonan syndrome 3
|
DOID_0070103 |
[A Noonan syndrome that has_material_basis_in an autosomal dominant mutation of the KRAS gene on chromosome 12p12.1.] |
