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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: Diseases (C)
Parent Node: Patterson Stevenson syndrome (C536311)
Parent Node: Polydactyly (D017689)
..Starting node ..POLYDACTYLY, PREAXIAL II (OMIM:174500)
Child Nodes:
Sister Nodes:
..Absence of tibia with polydactyly (C535564)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Crossed Polydactyly, Type I (C566783)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Desbuquois syndrome (C535943)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Garret Tripp syndrome (C535646)
..Hirschsprung disease polydactyly heart disease (C538120)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Holoprosencephaly 9 (C563659)
..Hydrolethalus Syndrome 1 (C565504)
..Kozlowski-Krajewska syndrome (C537615)
..Laurence Prosser Rocker syndrome (C537882)
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Maroteaux Fonfria syndrome (C536023)
..McKusick Kaufman syndrome (C538159)
..Meckel Syndrome, Type 4 (C567003)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Mexican Cardiomelic Dysplasia (C563087)
..Oliver Syndrome (C564931)
..Pallister-Hall Syndrome (D054975)
..Pfeiffer Mayer syndrome (C537888)
..Polydactyly myopia syndrome (C536331)
..Polydactyly preaxial type 1 (C536332)
..Polydactyly, Postaxial (C562429)
..Polydactyly, Postaxial, Type A2 (C566585)
..Polydactyly, Postaxial, Type A3 (C564590)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Polydactyly, preaxial 4 (C536333)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..Polydactyly, Preaxial III (C566784)
..Polysyndactyly, Crossed (C566773)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Preaxial Hallucal Polydactyly (C566632)
..Pseudotrisomy 13 syndrome (C535829)
..Santos Mateus Leal syndrome (C537235)
..Santos Syndrome (C567819)
..Scalp defects postaxial polydactyly (C536622)
..Short Rib-Polydactyly Syndrome (D012779) 3
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Syndactyly, Type IV (C566092)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 2 (C564278)
..Synpolydactyly 3 (C565216)
..Synpolydactyly With Foot Anomalies (C566095)
..Thai Symphalangism Syndrome (C564303)
..Tibia absent polydactyly arachnoid cyst (C536918)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..Urioste Martinez-Frias syndrome (C536478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9079

Name:

POLYDACTYLY, PREAXIAL II

Definition:

Alternative IDs:

ParentIDs:

MESH:C536311|MESH:D017689

TreeNumbers:

C05.116.099.370.231.576/C536311/174500 |C05.660.207.231.576/C536311/174500 |C05.660.585.600/174500 |C16.131.621.207.231.576/C536311/174500 |C16.131.621.585.600/174500 |C16.131/C536311/174500

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: 174500
MeSH: 174500
OMIM: 174500;

Genes: LMBR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009606	Complete duplication of distal phalanx of the thumb
3	HP:0010066	Duplication of phalanx of hallux	HP:0040282
4	HP:0005866	Opposable triphalangeal thumb	HP:0040281
5	HP:0001830	Postaxial foot polydactyly	HP:0040282
6	HP:0001162	Postaxial hand polydactyly	HP:0040282
7	HP:0001841	Preaxial foot polydactyly	HP:0040282
8	HP:0001177	Preaxial hand polydactyly	HP:0040281
9	HP:0001159	Syndactyly	HP:0040282

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_g	OtherIDs	Disease_ClinVar
NM_022458.3(LMBR1):c.423+5252A>G	64327	LMBR1	Pathogenic	606231150	RCV000005181; RCV000005182;	N	MedGen:C0241397,SNOMED CT:205308004; MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156583831	156583831	NM_022458.3:c.423+5252A>G	NC_000007.13:g.156583831T>C	OMIM Allelic Variant:605522.0007	C1868114 174500 Preaxial polydactyly 2; C0241397 Triphalangeal thumb
NM_022458.3(LMBR1):c.423+5134C>G	64327	LMBR1	Pathogenic	606231151	RCV000005183; RCV000005184;	N	MedGen:C0241397,SNOMED CT:205308004; MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156583949	156583949	NM_022458.3:c.423+5134C>G	NC_000007.13:g.156583949G>C	OMIM Allelic Variant:605522.0008	C1868114 174500 Preaxial polydactyly 2; C0241397 Triphalangeal thumb
NM_022458.3(LMBR1):c.423+4915C>T	64327	LMBR1	Pathogenic	587779752	RCV000148024; RCV000148023; RCV000148025;	N	MedGen:C0241397,SNOMED CT:205308004; MedGen:C1861099,OMIM:188740,ORPHA:988; MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584168	156584168	NM_022458.3:c.423+4915C>T	NC_000007.13:g.156584168G>A	OMIM Allelic Variant:605522.0021	C1868114 174500 Preaxial polydactyly 2; C1861099 188740 Tibia, hypoplasia of, with polydactyly; C0241397 Triphalangeal thumb
NM_022458.3(LMBR1):c.423+4909C>T	64327	LMBR1	Pathogenic	606231153	RCV000005189;	N	MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584174	156584174	NM_022458.3:c.423+4909C>T	NC_000007.13:g.156584174G>A	OMIM Allelic Variant:605522.0012	C1868114 174500 Preaxial polydactyly 2
NM_022458.3(LMBR1):c.423+4847T>G	64327	LMBR1	Pathogenic	606231231	RCV000023454;	N	MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584236	156584236	NM_022458.3:c.423+4847T>G	NC_000007.13:g.156584236A>C	OMIM Allelic Variant:605522.0014	C1868114 174500 Preaxial polydactyly 2
NM_022458.3(LMBR1):c.423+4842T>C	64327	LMBR1	Pathogenic	606231149	RCV000005178; RCV000005179;	N	MedGen:C0241397,SNOMED CT:205308004; MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584241	156584241	NM_022458.3:c.423+4842T>C	NC_000007.13:g.156584241A>G	OMIM Allelic Variant:605522.0005	C1868114 174500 Preaxial polydactyly 2; C0241397 Triphalangeal thumb
NM_022458.3(LMBR1):c.423+4818A>T	64327	LMBR1	Pathogenic	606231148	RCV000005177;	N	MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584265	156584265	NM_022458.3:c.423+4818A>T	NC_000007.13:g.156584265T>A	OMIM Allelic Variant:605522.0004	C1868114 174500 Preaxial polydactyly 2
NM_022458.3(LMBR1):c.423+4810G>A	64327	LMBR1	Pathogenic	606231230	RCV000023453;	N	MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584273	156584273	NM_022458.3:c.423+4810G>A	NC_000007.13:g.156584273C>T	OMIM Allelic Variant:605522.0013	C1868114 174500 Preaxial polydactyly 2
NM_022458.3(LMBR1):c.423+4808T>C	64327	LMBR1	Pathogenic	606231152	RCV000005188; RCV000005187;	N	MedGen:C0241397,SNOMED CT:205308004; MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584275	156584275	NM_022458.3:c.423+4808T>C	NC_000007.13:g.156584275A>G	OMIM Allelic Variant:605522.0011	C1868114 174500 Preaxial polydactyly 2; C0241397 Triphalangeal thumb
NM_022458.3(LMBR1):c.423+4618C>G	64327	LMBR1	Pathogenic	606231146	RCV000005175;	N	MedGen:C1868114,OMIM:174500,ORPHA:93336	7	156584465	156584465	NM_022458.3:c.423+4618C>G	NC_000007.13:g.156584465G>C	OMIM Allelic Variant:605522.0002	C1868114 174500 Preaxial polydactyly 2