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MEHMO syndrome
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DOID_0060801 |
[A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.] |
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syndromic X-linked intellectual disability Snyder type
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DOID_0060802 |
[A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.] |
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Calomys callosus
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NCBITaxon_56210 |
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obsolete Mycobacterium avium complex lymphadenitis
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DOID_5771 |
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obsolete Mycobacterium avium-intracellulare lymphadenitis
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DOID_5770 |
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papillary cystadenocarcinoma
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DOID_3110 |
[A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.] |
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cystadenocarcinoma
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DOID_3111 |
[An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.] |
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cervical alveolar soft part sarcoma
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DOID_4442 |
[An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix.] |
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oral submucous fibrosis
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DOID_5773 |
[A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.] |
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hematologic cancer
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DOID_2531 |
[An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.] |
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dysgerminoma
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DOID_4441 |
[A germ cell cancer that derives_from cells that give rise to egg cells.] |
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malignant cystadenoma
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DOID_60004 |
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papillary adenocarcinoma
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DOID_3112 |
[An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue.] |
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cavernous hemangioma of colon
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DOID_5775 |
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colonic disease
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DOID_5353 |
[A intestinal disease located in the colon.] |
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giant hemangioma
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DOID_5774 |
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obsolete cervical soft tissue tumor
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DOID_4443 |
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papillary carcinoma
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DOID_3113 |
[A carcinoma that is derives_from epithelial cells with finger like projections.] |
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serous cystadenocarcinoma
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DOID_3114 |
[A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.] |
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obsolete central nervous system cyst
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DOID_4446 |
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