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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

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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 ..Ischiopatellar dysplasia (C535540)
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:

5924

Name:

Ischiopatellar dysplasia

Definition:

Alternative IDs:

OMIM:147891

ParentIDs:

MESH:D001848

TreeNumbers:

C05.116.099/C535540

Synonyms:

Coxopodopatellar Syndrome |ISCHIOPATELLAR DYSPLASIA |Scott-Taor syndrome |Small patella syndrome |SPS

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C535540
MeSH: C535540
OMIM: 147891;

Genes: TBX4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000175	Cleft palate
3	HP:0002812	Coxa vara
4	HP:0003370	Flat capital femoral epiphysis
5	HP:0000218	High palate
6	HP:0008801	Hypoplasia of the lesser trochanter
7	HP:0000347	Micrognathia
8	HP:0006443	Patellar aplasia
9	HP:0002999	Patellar dislocation
10	HP:0003065	Patellar hypoplasia
11	HP:0001763	Pes planus
12	HP:0001852	Sandal gap
13	HP:0003097	Short femur
14	HP:0004322	Short stature
15	HP:0005682	Talocalcaneal synostosis
16	HP:0008784	Wide capital femoral epiphyses

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_018488.3(TBX4):c.184C>T (p.Gln62Ter)	9496	TBX4	Pathogenic	104894648	RCV000008306;	N	MedGen:C1840061,OMIM:147891,ORPHA:1509	17	59534035	59534035	NM_018488.3:c.184C>T	NP_060958.2:p.Gln62Ter	NC_000017.10:g.59534035C>T	OMIM Allelic Variant:601719.0002	C1840061 147891 Ischiopatellar dysplasia
NM_018488.3(TBX4):c.743G>T (p.Gly248Val)	9496	TBX4	Pathogenic	28938474	RCV000008305;	N	MedGen:C1840061,OMIM:147891,ORPHA:1509	17	59557282	59557282	NM_018488.3:c.743G>T	NP_060958.2:p.Gly248Val	NC_000017.10:g.59557282G>T	OMIM Allelic Variant:601719.0001	C1840061 147891 Ischiopatellar dysplasia
NM_018488.3(TBX4):c.1592A>G (p.Gln531Arg)	9496	TBX4	Pathogenic	28936696	RCV000008307;	N	MedGen:C1840061,OMIM:147891,ORPHA:1509	17	59560831	59560831	NM_018488.3:c.1592A>G	NP_060958.2:p.Gln531Arg	NC_000017.10:g.59560831A>G	OMIM Allelic Variant:601719.0003	C1840061 147891 Ischiopatellar dysplasia