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:
expandFacies (D019066)
Parent Node:
expandFetal Growth Retardation (D005317)
..Starting node
..expandGranddad Syndrome (C564211)

       Child Nodes:



 Sister Nodes: 
..expandBowen-Conradi syndrome (C537081)
..expandCamptodactyly syndrome Guadalajara type 2 (C537971)
..expandCartwright Nelson Fryns syndrome (C535917)
..expandCraniomicromelic Syndrome (C566522)
..expandDiabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)
..expandFetal akinesia syndrome, X-linked (C537921)
..expandFinnish lethal neonatal metabolic syndrome (C537934)
..expandGranddad Syndrome (C564211)
..expandHoloprosencephaly with Fetal Akinesia/Hypokinesia Sequence (C564409)
..expandHoyeraal Hreidarsson syndrome (C536068)
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLambotte syndrome (C537549)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..expandNeu Laxova syndrome (C536405)
..expandProgeroid syndrome, neonatal (C536423)
..expandRay Peterson Scott syndrome (C535292)
..expandSECKEL SYNDROME 4 (OMIM:613676)
..expandSharma Kapoor Ramji syndrome (C537595)
..expandShort stature and locking fingers (C537603)
..expandThymic-Renal-Anal-Lung dysplasia (C536907)
..expandTrichohepatoenteric Syndrome (C565627)
..expandWoods Leversha Rogers syndrome (C536744)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4781
Name:Granddad Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005317|MESH:D019066
TreeNumbers:C13.703.277.370/C564211 |C16.300.390/C564211 |C23.550.291.812/C564211 |C23.550.393.450/C564211
Synonyms:Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance
Slim Mappings:Fetal disease|Pathology (process)|Pregnancy complication
Reference: MedGen: C564211
MeSH: C564211
OMIM: 138920;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001595Abnormal hair morphology
3 HP:0000490Deeply set eye
4 HP:0002007Frontal bossing
5 HP:0001511Intrauterine growth retardation
6 HP:0005328Progeroid facial appearance
7 HP:0011220Prominent forehead
8 HP:0005322Prominent nasal septum
9 HP:0000411Protruding ear
10 HP:0003758Reduced subcutaneous adipose tissue
11 HP:0000233Thin vermilion border
12 HP:0000325Triangular face
13 HP:0000430Underdeveloped nasal alae
Disease Causing ClinVar Variants