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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.3
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemangioma, capillary infantile, somatic, 602089
- {Hemangioma, capillary infantile, susceptibility to}, 602089
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Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Other
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemangioma, capillary infantile, somatic, 602089
- {Hemangioma, capillary infantile, susceptibility to}, 602089
- {Hemangioma, capillary infantile, susceptibility to}
- Hemangioma, capillary infantile, somatic
- Hemangioma, capillary infantile, somatic, 602089
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|
Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Red
- London North GLH
- NHS GMS
Phenotypes
- Susceptibility to infantile haemangioma
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Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Heritable pulmonary arterial hypertension, MONDO:0017148
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