All terms in DOID

Label Id Description
split hand-foot malformation DOID_0090020 [A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.]
spondylitis DOID_6590
split hand-foot malformation 1 DOID_0090021 [A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.]
obsolete non-resectable cholangiocellular carcinoma DOID_5250
split hand-foot malformation 1 with sensorineural hearing loss DOID_0090024 [A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.]
split hand-foot malformation 3 DOID_0090025 [A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24.]
Abnormal leukocyte count HP_0011893
obsolete leiomyosarcoma recurrent DOID_5252
split hand-foot malformation 5 DOID_0090022 [A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31.]
breast apocrine carcinoma DOID_6581 [A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders.]
inflammatory leiomyosarcoma DOID_5251 [A leiomyosarcoma that is characterized by a prominent intristic inflammatory component.]
split hand-foot malformation 4 DOID_0090023 [A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28.]
central nervous system leiomyosarcoma DOID_5254 [A leiomyosarcoma that is located_in the central nervous system.]
familial isolated deficiency of vitamin E DOID_0090028 [A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.]
vitamin metabolic disorder DOID_0050718 [An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism.]
conventional leiomyosarcoma DOID_5253 [A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma.]
breast tubular carcinoma DOID_6587 [A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma.]
CINCA Syndrome DOID_0090029 [An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.]
split hand-foot malformation 6 DOID_0090026 [A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.]
breast oncocytic carcinoma DOID_6585 [A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria.]