Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Mitral Valve Prolapse (D008945)
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Myopia (D009216)
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Skin Diseases (D012871)
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MASS syndrome (C536030)

       Child Nodes:



 Sister Nodes: 
..expandAcneiform Eruptions (D017486) Child5
..expandAngiolymphoid Hyperplasia with Eosinophilia (D000796)
..expandBorrone Di Rocco Crovato syndrome (C536577)
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBreast Diseases (D001941) Child45
..expandC SYNDROME (OMIM:211750)
..expandCutaneous Fistula (D017577)
..expandDermatitis (D003872) Child57
..expandDermatoleukodystrophy (C538220)
..expandDermatomyositis (D003882) Child2
..expandEctodermal dysplasia/ skin fragility syndrome (C536183)
..expandElastosis perforans serpiginosa (C536202)
..expandElliott Ludman Teebi syndrome (C536204)
..expandErythema (D004890) Child19
..expandExanthema (D005076) Child1
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFACES syndrome (C536384)
..expandFacial Dermatoses (D005148) Child11
..expandFacial ectodermal dysplasia (C536385)
..expandFlynn Aird syndrome (C537066)
..expandFoot Diseases (D005534) Child13
..expandHair Diseases (D006201) Child174
..expandHand Dermatoses (D006229) Child1
..expandHernandez Fragoso syndrome (C536062)
..expandKeratoacanthoma (D007636) Child1
..expandKeratosis (D007642) Child149
..expandLeg Dermatoses (D007868)
..expandLipomatosis (D008068) Child11
..expandLupus Erythematosus, Cutaneous (D008178) Child3
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMASS syndrome (C536030)
..expandMastocytosis (D008415) Child9
..expandMedian cleft lip, corpus callosum, lipoma, and skin polyps (C536135)
..expandMental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..expandMorgellons Disease (D055535)
..expandNail Diseases (D009260) Child42
..expandNecrobiotic Disorders (D017441) Child3
..expandNecrolytic Migratory Erythema (D058568)
..expandNephrogenic Fibrosing Dermopathy (D054989)
..expandOSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS (OMIM:612852)
..expandPanniculitis (D015434) Child6
..expandPhotosensitivity Disorders (D010787) Child31
..expandPigmentation Disorders (D010859) Child147
..expandPrurigo (D011536)
..expandPruritus (D011537) Child6
..expandPseudoatrophoderma Colli (C562909)
..expandPyoderma (D011711) Child3
..expandRosacea (D012393) Child1
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandScalp Dermatoses (D012536) Child10
..expandScleredema Adultorum (D012592)
..expandScleroderma, Localized (D012594) Child5
..expandScleroderma, Systemic (D012595) Child7
..expandSebaceous Gland Diseases (D012625) Child12
..expandSkin Abnormalities (D012868) Child358
..expandSkin Diseases, Eczematous (D017443) Child35
..expandSkin Diseases, Genetic (D012873) Child462
..expandSkin Diseases, Infectious (D012874) Child103
..expandSkin Diseases, Metabolic (D012875) Child33
..expandSkin Diseases, Papulosquamous (D017444) Child26
..expandSkin Diseases, Vascular (D017445) Child33
..expandSkin Diseases, Vesiculobullous (D012872) Child54
..expandSkin Neoplasms (D012878) Child41
..expandSkin Ulcer (D012883) Child10
..expandSweat Gland Diseases (D013543) Child25
..expandUpton Young syndrome (C536473)
..expandXanthogranuloma, Juvenile (D014972)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6815
Name:MASS syndrome
Definition:
Alternative IDs:OMIM:604308
ParentIDs:MESH:D008945|MESH:D009216|MESH:D012871
TreeNumbers:C11.744.636/C536030 |C14.280.484.400.500/C536030 |C17.800/C536030
Synonyms:Mass phenotype |OCTD |Overlap connective tissue disease
Slim Mappings:Cardiovascular disease|Eye disease|Skin disease
Reference: MedGen: C536030
MeSH: C536030
OMIM: 604308;

Genes: FBN1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000766Abnormal sternum morphology
3 HP:0004942Aortic aneurysm
4 HP:0001519Disproportionate tall stature
5 HP:0001634Mitral valve prolapse
6 HP:0001065Striae distensae
Disease Causing ClinVar Variants