Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandFunnel Chest (D005660)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMegalencephaly (D058627)
Parent Node:
expandNail Diseases (D009260)
..Starting node
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)

       Child Nodes:



 Sister Nodes: 
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBasaran Yilmaz syndrome (C537660)
..expandBrachydactyly type A5 nail dysplasia (C537091)
..expandCandidiasis, Familial, 3 (C564361)
..expandDermatopathia pigmentosa reticularis (C535374)
..expandDouble Nail for Fifth Toe (C565090)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..expandFLOTCH syndrome (C537065)
..expandHooft disease (C535329)
..expandJudge Misch Wright syndrome (C537692)
..expandKeratoderma palmoplantar spastic paralysis (C536153)
..expandLeukonychia totalis (C535889)
..expandNail dysplasia, isolated congenital (C538333)
..expandNail-Patella Syndrome (D009261) Child1
..expandNails, Ingrown (D009263)
..expandOdontomicronychial dysplasia (C537741)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandOnycholysis (D054039) Child3
..expandOnychomycosis (D014009)
..expandPachyonychia Congenita (D053549) Child5
..expandParonychia (D010304)
..expandPatel Bixler syndrome (C536306)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandSubungual exostoses (C535723)
..expandT-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..expandToenail Dystrophy, Isolated (C564384)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandTRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..expandTwenty-Nail Dystrophy (C562907)
..expandYellow Nail Syndrome (D056684) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8733
Name:Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Definition:
Alternative IDs:
ParentIDs:MESH:D005660|MESH:D006130|MESH:D009260|MESH:D058627
TreeNumbers:C05.116.099.386/C563941 |C05.660.207.536/C563941 |C05.660.386/C563941 |C10.500.507.400.249/C563941 |C16.131.621.207.532/C563941 |C16.131.621.386/C563941 |C16.131.666.507.400.249/C563941 |C17.800.529/C563941 |C23.550.393/C563941
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (process)|Skin disease
Reference: MedGen: C563941
MeSH: C563941
OMIM: 600399;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005280Depressed nasal bridge
3 HP:0001290Generalized hypotonia
4 HP:0001263Global developmental delay
5 HP:0000256Macrocephaly
6 HP:0000272Malar flattening
7 HP:0011800Midface retrusion
8 HP:0002164Nail dysplasia
9 HP:0000767Pectus excavatum
10 HP:0011220Prominent forehead
11 HP:0000336Prominent supraorbital ridges
12 HP:0004482Relative macrocephaly
13 HP:0004322Short stature
Disease Causing ClinVar Variants