DOID:9471
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Homo sapiens (human)
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DOID:0110282
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autosomal recessive limb-girdle muscular dystrophy type 2H
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Aliases:
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LGMD2H
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limb-girdle muscular dystrophy due to TRIM32 deficiency
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muscular dystrophy Hutterite type
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sarcotubular myopathy
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Homo sapiens (human)
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DOID:14067
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Plasmodium falciparum malaria
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Aliases:
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Malaria fever, subtertian
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falciparum malaria
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malignant tertian fever
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Homo sapiens (human)
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DOID:656
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adrenal adenoma
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Aliases:
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adenoma of the Adrenal gland
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Homo sapiens (human)
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DOID:0110640
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congenital muscular dystrophy due to LMNA mutation
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Aliases:
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L-CMD
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LMNA-related congenital muscular dystrophy
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congenital muscular dystrophy LMNA-related
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Homo sapiens (human)
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DOID:0110754
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type 1 diabetes mellitus 17
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Aliases:
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IDDM17
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Insulin-Dependent Diabetes Mellitus 17
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Homo sapiens (human)
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DOID:6811
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juvenile pilocytic astrocytoma
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Homo sapiens (human)
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DOID:11260
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Homo sapiens (human)
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DOID:13677
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SAPHO syndrome
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Aliases:
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Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
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Homo sapiens (human)
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DOID:2580
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rhizomelic chondrodysplasia punctata
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Aliases:
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Chondrodysplasia Punctata, Rhizomelic Form
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Homo sapiens (human)
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DOID:0110851
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rhizomelic chondrodysplasia punctata type 1
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Aliases:
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Pbd9
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Peroxisome Biogenesis Disorder 9
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Rcdp1
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Homo sapiens (human)
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DOID:0111265
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Boucher-Neuhauser syndrome
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Aliases:
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ataxia-hypogonadism-choroidal dystrophy syndrome
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Homo sapiens (human)
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DOID:0110043
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Alzheimer's disease 10
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Aliases:
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AD10
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Alzheimer disease 10
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Alzheimer disease familial 10
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Alzheimer's disease 10, early onset
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Homo sapiens (human)
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DOID:11843
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coronary artery anomaly
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Aliases:
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Congenital anomaly of coronary artery
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Coronary artery abnormality
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Coronary artery anomaly, congenital
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Homo sapiens (human)
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DOID:2710
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Homo sapiens (human)
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DOID:0080149
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adult acute monocytic leukemia
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Homo sapiens (human)
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DOID:11664
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Homo sapiens (human)
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DOID:0111460
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cardiofaciocutaneous syndrome 1
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Aliases:
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Homo sapiens (human)
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DOID:971
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|
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Homo sapiens (human)
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DOID:10003
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sensorineural hearing loss
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Aliases:
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High Frequency Hearing Loss
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High frequency deafness
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Perceptive deafness
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Perceptive hearing loss
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Perceptive hearing loss or deafness
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Sensorineural Deafness
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Sensory hearing loss
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central hearing loss
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high-frequency hearing loss
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Homo sapiens (human)
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DOID:3342
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bone inflammation disease
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Aliases:
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Inflammatory disorder of bone
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bone inflammatory disease
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osteitis
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Homo sapiens (human)
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DOID:2862
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glucosephosphate dehydrogenase deficiency
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Aliases:
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Glucose-6-phosphate dehydrogenase deficiency
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deficiency of G-6PD
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Homo sapiens (human)
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DOID:0060710
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autosomal recessive congenital ichthyosis 2
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Aliases:
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ARCI2
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BROCQ congenital ichthyosiform erythroderma nonbullous form
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NCIE1
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nonbullous congenital ichthyosiform erythroderma 1
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Homo sapiens (human)
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DOID:0050145
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Homo sapiens (human)
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DOID:0090017
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epidermolysis bullosa simplex with muscular dystrophy
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Aliases:
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epidermolysis bullosa simplex and limb-girdle muscular dystrophy
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limb-girdle muscular dystrophy with epidermolysis bullosa simplex
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Homo sapiens (human)
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