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familial thyroid dyshormonogenesis
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DOID_0112183 |
[A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis.] |
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HELLP syndrome
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DOID_13133 |
[A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.] |
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obsolete drug-induced persisting amnestic disease
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DOID_14467 |
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syndromic X-linked intellectual disorder Lujan-Fryns-type
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DOID_0080985 |
[A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.] |
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thyroid dyshormonogenesis 4
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DOID_0112188 |
[A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.] |
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Ehlers-Danlos syndrome periodontal type 1
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DOID_0080986 |
[An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13.] |
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thyroid dyshormonogenesis 3
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DOID_0112187 |
[A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.] |
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Ehlers-Danlos syndrome periodontal type 2
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DOID_0080987 |
[An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.] |
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thyroid dyshormonogenesis 2A
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DOID_0112186 |
[A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.] |
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arthrogryposis multiplex congenita-4
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DOID_0080980 |
[An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23.] |
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thyroid dyshormonogenesis 1
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DOID_0112185 |
[A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.] |
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arthrogryposis multiplex congenita-5
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DOID_0080981 |
[An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.] |
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thyroid dyshormonogenesis 5
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DOID_0112184 |
[A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.] |
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X-linked intellectual disability-hypotonic facies syndrome-1
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DOID_0080982 |
[A syndromic X-linked intellectual disability that is characterized primarily by severely impaired intellectual development, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene on chromosome Xq13. This now comprises several syndromes previously reported separately, including Carpenter-Waziri syndrome, Holmes-Gang syndrome, and Smith-Fineman-Myers syndrome.] |
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mismatch repair cancer syndrome
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DOID_0112182 |
[A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.] |
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crescentic glomerulonephritis
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DOID_13139 |
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acute proliferative glomerulonephritis
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DOID_13138 |
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pretibial dystrophic epidermolysis bullosa
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DOID_0080988 |
[An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa.] |
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Werdnig-Hoffmann disease
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DOID_13137 |
[A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.] |
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cavernous hemangioma of orbit
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DOID_14463 |
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