Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Craniosynostoses (D003398)
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Facies (D019066)
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Musculoskeletal Diseases (D009140)
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Psychomotor Disorders (D011596)
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Skin Diseases (D012871)
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C SYNDROME (OMIM:211750)

       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:2884
Name:C SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D003398|MESH:D009140|MESH:D011596|MESH:D012871|MESH:D019066
TreeNumbers:C05.116.099.370.894.232/211750 |C05/211750 |C05.660.207.240/211750 |C05.660.207.707.249/211750 |C05.660.906.364/211750 |C10.597.606.881/211750 |C16.131.621.207.240/211750 |C16.131.621.207.707.249/211750 |C16.131.621.906.364/211750 |C17.800/211750 |C23.550.291.812/
Synonyms:OPITZ TRIGONOCEPHALY SYNDROME |TRIGONOCEPHALY SYNDROME
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: 211750
MeSH: 211750
OMIM: 211750;

Genes: CD96;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000191Accessory oral frenulum
3 HP:0000463Anteverted nares
4 HP:0030084Clinodactyly
5 HP:0008665Clitoral hypertrophy
6 HP:0000028Cryptorchidism
7 HP:0000973Cutis laxa
8 HP:0002750Delayed skeletal maturation
9 HP:0003083Dislocated radial head
10 HP:0000286Epicanthus
11 HP:0001508Failure to thrive
12 HP:0006643Fused sternal ossification centers
13 HP:0001290Generalized hypotonia
14 HP:0001263Global developmental delay
15 HP:0002240Hepatomegaly
16 HP:0000218High palate
17 HP:0002827Hip dislocation
18 HP:0001252Hypotonia
19 HP:0009826Limb undergrowth
20 HP:0000369Low-set ears
21 HP:0000252Microcephaly
22 HP:0000347Micrognathia
23 HP:0002983Micromelia
24 HP:0001539Omphalocele
25 HP:0001643Patent ductus arteriosus
26 HP:0001830Postaxial foot polydactyly
27 HP:0001162Postaxial hand polydactyly
28 HP:0000358Posteriorly rotated ears
29 HP:0009466Radial deviation of finger
30 HP:0000803Renal cortical cysts
31 HP:0002650Scoliosis
32 HP:0001250Seizure
33 HP:0010049Short metacarpal
34 HP:0003196Short nose
35 HP:0004322Short stature
36 HP:0000486Strabismus
37 HP:0009100Thick anterior alveolar ridges
38 HP:0001770Toe syndactyly
39 HP:0000243Trigonocephaly
40 HP:0009465Ulnar deviation of finger
41 HP:0000582Upslanted palpebral fissure
42 HP:0001629Ventricular septal defect
43 HP:0000154Wide mouth
44 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_198196.2(CD96):c.839C>T (p.Thr280Met)10225CD96Pathogenic119477056RCV000004903; NMedGen:C0796095,OMIM:211750,ORPHA:13083111304209111304209NM_198196.2:c.839C>TNP_937839.1:p.Thr280MetNC_000003.11:g.111304209C>TOMIM Allelic Variant:606037.0002C0796095 211750 C syndrome