DOID:8689
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Homo sapiens (human)
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DOID:0080169
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Homo sapiens (human)
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DOID:0111261
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fumarase deficiency
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Aliases:
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Homo sapiens (human)
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DOID:2750
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glycogen storage disease IV
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Aliases:
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Amylopectinosis
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Branching-transferase deficiency glycogenosis
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Glycogen storage disease 4
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Glycogen storage disease, type IV
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brancher deficiency glycogenosis
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deficiency of 1,4-alpha-glucan branching enzyme
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Homo sapiens (human)
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DOID:423
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Homo sapiens (human)
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DOID:2021
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placenta cancer
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Aliases:
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Placental tumors
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malignant Placental tumor
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malignant neoplasm of placenta
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neoplasm of placenta
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placental cancer
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primary malignant neoplasm of placenta
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Homo sapiens (human)
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DOID:0090018
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autosomal dominant familial periodic fever
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Aliases:
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FHF
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FPF
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TNF receptor associated periodic syndrome
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TRAPS
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familial Hibernian fever
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hibernian fever
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tumor necrosis factor receptor associated periodic syndrome
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Homo sapiens (human)
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DOID:3783
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Homo sapiens (human)
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DOID:3651
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pyruvate carboxylase deficiency disease
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Aliases:
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deficiency of pyruvic carboxylase
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Homo sapiens (human)
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DOID:461
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muscle benign neoplasm
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Aliases:
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Myomatous neoplasm
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Myomatous tumor
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muscle neoplasm
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muscle tissue neoplasm
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neoplasm of muscle
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Homo sapiens (human)
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DOID:0060127
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gamma heavy chain disease
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Aliases:
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Homo sapiens (human)
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DOID:870
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Homo sapiens (human)
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DOID:0070192
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autosomal recessive chronic granulomatous disease 1
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Aliases:
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CDG1
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autosomal recessive chronic granulomatous disease cytochrome b-positive type I
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chronic granulomatous disease due to deficiency of NCF-1
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deficiency of NCF1
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deficiency of SOC2
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deficiency of neutrophil cytosol factor 1
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deficiency of p47-PHOX
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deficiency of soluble oxidase component II
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Homo sapiens (human)
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DOID:14515
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WAGR syndrome
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Aliases:
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11p partial monosomy syndrome
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Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome
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chromosome 11p13 deletion syndrome
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Homo sapiens (human)
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DOID:0110549
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autosomal dominant nonsyndromic deafness 18
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Aliases:
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DFNA18
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autosomal dominant deafness 18
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Homo sapiens (human)
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DOID:11714
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gestational diabetes
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Aliases:
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GDM
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Gestational diabetes mellitus
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Maternal gestational diabetes mellitus
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Homo sapiens (human)
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DOID:10606
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blind loop syndrome
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Aliases:
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Bacterial overgrowth syndrome
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Homo sapiens (human)
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DOID:127
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leiomyoma
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Aliases:
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leiomyomatous neoplasm
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leiomyomatous tumor
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Homo sapiens (human)
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DOID:0110636
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congenital merosin-deficient muscular dystrophy 1A
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Aliases:
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CMD1A
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MDC1A
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Merosin-negative congenital muscular dystrophy
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congenital muscular dystrophy due to laminin alpha2 deficiency
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Homo sapiens (human)
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DOID:8432
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Homo sapiens (human)
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DOID:9428
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intracranial hypertension
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Aliases:
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Raised intracranial pressure
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Homo sapiens (human)
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DOID:0110561
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autosomal dominant nonsyndromic deafness 31
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Aliases:
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DFNA31
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autosomal dominant deafness 31
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Homo sapiens (human)
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DOID:0060862
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mal de Meleda
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Aliases:
-
Meleda disease
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keratosis palmoplantaris transgrediens of Siemens
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transgrediens palmoplantar keratoderma of Siemens
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Homo sapiens (human)
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DOID:4188
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Homo sapiens (human)
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DOID:811
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Homo sapiens (human)
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