DOID:0080200
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Homo sapiens (human)
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DOID:0060287
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Homo sapiens (human)
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DOID:7757
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Homo sapiens (human)
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DOID:0110590
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autosomal dominant nonsyndromic deafness 69
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Aliases:
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DCUA
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DFNA69
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autosomal dominant deafness 69
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unilateral or asymmetric congenital deafness
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Homo sapiens (human)
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DOID:0080932
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primary localized cutaneous amyloidosis 3
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Aliases:
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Amyloidosis cutis dyschromica
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Homo sapiens (human)
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DOID:14118
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familial lipoprotein lipase deficiency
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Aliases:
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Fredrickson type I hyperlipoproteinemia
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Fredrickson type I lipaemia
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familial LPL deficiency
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familial hyperlipoproteinemia type I
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hypercholesterinaemic xanthomatosis
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hyperchylomicronemia
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mixed hyperglyceridemia
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Homo sapiens (human)
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DOID:10457
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Legionnaires' disease
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Aliases:
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Infection by Legionella pneumophilia
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Legionella
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Legionella pneumonia
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Legionnaire's disease
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Homo sapiens (human)
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DOID:3690
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brachial plexus neuropathy
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Aliases:
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Brachial plexus disorder
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brachial plexopathy
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Homo sapiens (human)
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DOID:0111256
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hyperferritinemia-cataract syndrome
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Aliases:
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Bonneau-Beaumont syndrome
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HHCS
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HRFTC
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cataract-hyperferritinemia syndrome
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hereditary hyperferritinemia with congenital cataracts
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hereditary hyperferritinemia-cataract syndrome
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hyperferritinemia with or without cataract
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Homo sapiens (human)
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DOID:0110261
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cataract 35
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Aliases:
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CATCN1
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CTRCT35
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autosomal recessive congenital nuclear cataract 1
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cataract 35, congenital nuclear
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Homo sapiens (human)
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DOID:0060235
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carnitine palmitoyltransferase II deficiency
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Aliases:
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CPT-II
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infantile carnitine palmitoyltransferase II deficiency
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late-onset carnitine palmitoyltransferase II deficiency
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lethal neonatal carnitine palmitoyltransferase II deficiency
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Homo sapiens (human)
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DOID:9408
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acute myocardial infarction
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Homo sapiens (human)
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DOID:1838
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Menkes disease
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Aliases:
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COPPER TRANSPORT DISEASE
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Menkes kinky-hair syndrome
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steely hair syndrome
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Homo sapiens (human)
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DOID:3025
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acinar cell carcinoma
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Aliases:
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Homo sapiens (human)
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DOID:3069
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malignant astrocytoma
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Aliases:
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Astrocytic tumor
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astrocytoma of Cerebrum
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astrocytoma of brain
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astroglioma
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cerebral astrocytoma
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Homo sapiens (human)
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DOID:0080122
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Alpers-Huttenlocher syndrome
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Aliases:
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Alper's syndrome
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Alpers disease
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Alpers progressive infantile poliodystrophy
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Alpers syndrome
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Alpers' disease or gray-matter degeneration
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Diffuse Cerebral Sclerosis of Schilder
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mitochondrial DNA depletion syndrome 4a
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progressive sclerosing poliodystrophy
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Homo sapiens (human)
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DOID:5032
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pineal gland cancer
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Aliases:
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Pineocytic tumor
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malignant Pineal Region tumor
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malignant tumor of pineal gland
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neoplasm of pineal gland
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neoplasm of the Pineal Region
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pineal body neoplasm
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tumor of the pineal region
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Homo sapiens (human)
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DOID:3689
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brachial plexus neuritis
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Aliases:
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Brachial neuritis
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Parsonage-Aldren-Turner syndrome
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Homo sapiens (human)
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DOID:0080036
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SOST-related sclerosing bone dysplasia
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Aliases:
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Homo sapiens (human)
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DOID:3178
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skin papilloma
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Aliases:
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cutaneous papilloma
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papilloma of skin
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Homo sapiens (human)
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DOID:9893
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Homo sapiens (human)
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DOID:139
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squamous cell papilloma
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Aliases:
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Homo sapiens (human)
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DOID:0050664
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Bietti crystalline corneoretinal dystrophy
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Aliases:
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Bietti's crystalline dystrophy
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Homo sapiens (human)
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DOID:0110726
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neuronal ceroid lipofuscinosis 2
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Aliases:
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CLN2
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neuronal ceroid lipofuscinosis 2 variable age at onset
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Homo sapiens (human)
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DOID:0060844
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Norrie disease
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Aliases:
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Episkopi blindness
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Norrie-Warburg disease
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atrophia bulborum hereditaria
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Homo sapiens (human)
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