DOID:0060260
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ptosis
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Aliases:
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blepharoptosis
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drooping eyelid
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|
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Homo sapiens (human)
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DOID:0060261
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|
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Homo sapiens (human)
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DOID:10426
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Klippel-Feil syndrome
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Aliases:
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Klippel-Feil and Turner syndrome
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Klippel-Feil deformity, deafness and facial asymmetry
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autosomal dominant Klippel-Feil syndrome
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congenital dystrophia brevicollis
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congenital synostosis of cervical vertebrae
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|
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Homo sapiens (human)
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DOID:6682
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|
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Homo sapiens (human)
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|
DOID:1040
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-
chronic lymphocytic leukemia
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Aliases:
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B-cell chronic lymphocytic leukaemia
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B-cell chronic lymphocytic leukemia
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CLL
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chronic lymphatic leukaemia
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chronic lymphatic leukemia
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chronic lymphocytic leukaemia
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lymphoplasmacytic leukaemia
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lymphoplasmacytic leukemia
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|
|
Homo sapiens (human)
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|
DOID:1703
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-
Richter's syndrome
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Aliases:
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|
|
Homo sapiens (human)
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|
DOID:0060467
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|
|
|
Homo sapiens (human)
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|
DOID:13994
|
-
cleidocranial dysplasia
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Aliases:
-
Marie-Sainton Disease
-
cleidocranial dysostosis
|
|
|
Homo sapiens (human)
|
|
DOID:9827
|
|
|
|
Homo sapiens (human)
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|
DOID:12603
|
-
acute leukemia
-
Aliases:
-
Stem cell Leukemia
-
Stem cell leukaemia
|
|
|
Homo sapiens (human)
|
|
DOID:0080073
|
|
|
|
Homo sapiens (human)
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|
DOID:0060577
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|
|
|
Homo sapiens (human)
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|
DOID:0060225
|
-
3MC syndrome
-
Aliases:
-
craniofacial-ulnar-renal syndrome
-
oculopalatoskeletal syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:1432
|
-
blindness
-
Aliases:
-
vision impairment
-
vision loss
-
visual impairment
|
|
|
Homo sapiens (human)
|
|
DOID:10584
|
-
retinitis pigmentosa
-
Aliases:
-
pericentral pigmentary retinopathy
|
|
|
Homo sapiens (human)
|
|
DOID:11105
|
-
fundus albipunctatus
-
Aliases:
-
Pigmentary retinal dystrophy
-
retinitis punctata albescens
|
|
|
Homo sapiens (human)
|
|
DOID:92
|
|
|
|
Homo sapiens (human)
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|
DOID:0110632
|
-
megaconial type congenital muscular dystrophy
-
Aliases:
-
congenital megaconial myopathy
-
congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
-
congenital muscular dystrophy with mitochondrial structural abnormalities
-
megaconial congenital muscular dystrophy
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|
|
Homo sapiens (human)
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|
DOID:0110636
|
-
congenital merosin-deficient muscular dystrophy 1A
-
Aliases:
-
CMD1A
-
MDC1A
-
Merosin-negative congenital muscular dystrophy
-
congenital muscular dystrophy due to laminin alpha2 deficiency
|
|
|
Homo sapiens (human)
|
|
DOID:0110635
|
-
muscular dystrophy-dystroglycanopathy type B5
-
Aliases:
-
FKRP-related congenital muscular dystrophy
-
MDC1C
-
MDDGB5
-
congenital muscular dystrophy 1C
-
muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
-
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
|
|
|
Homo sapiens (human)
|
|
DOID:0110639
|
-
congenital muscular dystrophy due to integrin alpha-7 deficiency
-
Aliases:
-
congenital muscular dystrophy with ITGA7 deficiency
-
congenital muscular dystrophy with integrin alpha-7 deficiency
-
congenital myopathy due to integrin alpha-7 deficiency
|
|
|
Homo sapiens (human)
|
|
DOID:3191
|
-
nemaline myopathy
-
Aliases:
-
Nemaline body disease
-
nemaline rod myopathy
-
rod body disease
-
rod myopathy
|
|
|
Homo sapiens (human)
|
|
DOID:0110640
|
-
congenital muscular dystrophy due to LMNA mutation
-
Aliases:
-
L-CMD
-
LMNA-related congenital muscular dystrophy
-
congenital muscular dystrophy LMNA-related
|
|
|
Homo sapiens (human)
|
|
DOID:3529
|
-
congenital myopathy 1A
-
Aliases:
-
central core disease
-
central core myopathy
|
|
|
Homo sapiens (human)
|
|
DOID:0110633
|
-
rigid spine muscular dystrophy 1
-
Aliases:
-
Eichsfeld type congenital muscular dystrophy
-
MDRS1
-
RSMD1
-
RSS
-
SEPN1-related myopathy
-
classic MmD
-
classic multiminicore disease
-
classic multiminicore myopathy
-
congenital merosin-positive muscular dystrophy with early spine rigidity
-
desmin-related myopathy with Mallory bodies
-
desmin-related myopathy with Mallory body-like inclusions
-
early-onset desmin-related myopathy
-
rigid spine syndrome
-
severe classic form minicore myopathy
-
severe classic form multicore myopathy
-
severe classic form multiminicore disease
|
|
|
Homo sapiens (human)
|
|