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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Bone Diseases, Developmental (D001848)
..Starting node ..Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
Child Nodes:
Sister Nodes:
..Acro-Osteolysis (D030981) 7
..Acrocapitofemoral Dysplasia (C564334)
..Acromesomelic dysplasia, Maroteaux type (C535661)
..Acromicric dysplasia (C535662) 1
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..Angel shaped phalangoepiphyseal dysplasia (C536361)
..Baby Rattle Pelvis Dysplasia (C565282)
..Basal Cell Nevus Syndrome (D001478) 1
..Battaglia Neri syndrome (C537662)
..Bazopoulou Kyrkanidou syndrome (C537664)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Blount disease (C536237)
..Bone Dysplasia, Lethal, Holmgren Type (C565896)
..Brachioskeletogenital syndrome (C537084)
..Brachymesomelia renal syndrome (C537096)
..Brittle Bone Disorder (C565842)
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..CATSHL syndrome (C537975)
..Cervical Vertebral Dysplasia (C566140)
..Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..Craniolenticulosutural Dysplasia (C564332)
..Deafness conductive ptosis skeletal anomalies (C535993)
..Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..Diaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..Doughnut Lesions of Skull, Familial (C565089)
..Dwarfism (D004392) 155
..Dysostoses (D004413) 262
..Dysplasia epiphysealis hemimelica (C537997)
..Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..Fountain syndrome (C537270)
..Fryns Hofkens Fabry syndrome (C538069)
..Funnel Chest (D005660) 4
..Gigantism (D005877) 1
..Gracile bone dysplasia (C537291)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hall Riggs mental retardation syndrome (C535623)
..Ischiopatellar dysplasia (C535540)
..Kantaputra Gorlin syndrome (C535547)
..KBG syndrome (C537015)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Kozlowski Warren Fisher syndrome (C537614)
..Kyphomelic dysplasia (C538128)
..Larsen syndrome, recessive type (C537874)
..Leg Length Inequality (D007870)
..Lenz Majewski hyperostotic dwarfism (C537115)
..Lissencephaly Type III and Bone Dysplasia (C563383)
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..Marfan Syndrome (D008382) 9
..Marshall-Smith syndrome (C536026)
..Membranous Cranial Ossification, Delayed (C563592)
..Mesomelic Dysplasia, Camera Type (C567503)
..Mesomelic Limb Shortening and Bowing (C565404)
..Mononen Karnes Senac syndrome (C535914)
..Osteochondrodysplasias (D010009) 367
..Osteofibrous Dysplasia (C563276)
..Osteolysis, Essential (D010015) 1
..Osteosclerosis with ichthyosis and premature ovarian failure (C536064)
..Patterson pseudoleprechaunism syndrome (C536310)
..Pectus Carinatum (D066166)
..Platybasia (D010985) 1
..Pointer syndrome (C536323)
..Prenatal Bowing (C564873)
..Proteus Syndrome (D016715) 1
..Radius absent anogenital anomalies (C535281)
..Rhizomelic dysplasia Patterson Lowry type (C537609)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..Rhizomelic syndrome (C537611)
..Roifman-Chitayat Syndrome (C567641)
..Santos Syndrome (C567819)
..Schwartz-Lelek syndrome (C537519)
..Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
..Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification (C566687)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..Spranger Schinzel Myers syndrome (C535801)
..Stoll Levy Francfort syndrome (C537498)
..Trichoodontoonychial Dysplasia (C564760)
..Ulna hypoplasia with mental retardation (C536934)
..Vertebral body fusion overgrowth (C536543)
..Weill-Marchesani Syndrome (D056846)
..Weismann Netter syndrome (C537082)
..Wiedemann Oldigs Oppermann syndrome (C536705)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10200

Name:

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities

Definition:

Alternative IDs:

ParentIDs:

MESH:D001848

TreeNumbers:

C05.116.099/C566544

Synonyms:

Sams

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C566544
MeSH: C566544
OMIM: 602471;

Genes: GSC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0000413	Atresia of the external auditory canal
4	HP:0000405	Conductive hearing impairment
5	HP:0000028	Cryptorchidism
6	HP:0000490	Deeply set eye
7	HP:0008785	Delayed ossification of pubic rami
8	HP:0003083	Dislocated radial head
9	HP:0000494	Downslanted palpebral fissures
10	HP:0011968	Feeding difficulties
11	HP:0001371	Flexion contracture
12	HP:0000218	High palate
13	HP:0002827	Hip dislocation
14	HP:0000882	Hypoplastic scapulae
15	HP:0000601	Hypotelorism
16	HP:0000272	Malar flattening
17	HP:0000347	Micrognathia
18	HP:0000160	Narrow mouth
19	HP:0004467	Preauricular pit
20	HP:0008905	Rhizomelia
21	HP:0006595	Scapulohumeral synostosis
22	HP:0005792	Short humerus
23	HP:0004322	Short stature
24	HP:0001762	Talipes equinovarus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_173849.2(GSC):c.400C>T (p.Gln134Ter)	145258	GSC	Pathogenic	587777289	RCV000114412;	N	MedGen:C1865361,OMIM:602471,ORPHA:397623	14	95235510	95235510	NM_173849.2:c.400C>T	NP_776248.1:p.Gln134Ter	14:g.95235510G>A	OMIM Allelic Variant:138890.0002	C1865361 602471 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
NM_173849.2(GSC):c.355+1G>C	145258	GSC	Pathogenic	587777290	RCV000114413;	N	MedGen:C1865361,OMIM:602471,ORPHA:397623	14	95235997	95235997	NM_173849.2:c.355+1G>C		14:g.95235997C>G	OMIM Allelic Variant:138890.0003	C1865361 602471 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
NM_173849.2(GSC):c.196_212del17 (p.Gly66Argfs)	145258	GSC	Pathogenic	587777288	RCV000114411;	N	MedGen:C1865361,OMIM:602471,ORPHA:397623	14	95236141	95236157	NM_173849.2:c.196_212del17	NP_776248.1:p.Gly66Argfs		OMIM Allelic Variant:138890.0001	C1865361 602471 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities