Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SRTD13 MCID: SHR083 MIFTS: 34	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (SRTD13) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Srtd13 ⁵⁷ ¹² ⁷³

Dysplasia, Short-Rib Thoracic, Type 13 with or Without Polydactyly ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
death occurs early in neonatal period due to respiratory failure
fetal death may occur

HPO:

³¹

short-rib thoracic dysplasia 13 with or without polydactyly:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Eye diseases Nephrological diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Short rib syndrome

External Ids:

Disease Ontology ¹² DOID:0110093

OMIM® ⁵⁷ 616300

OMIM Phenotypic Series ⁵⁷ PS208500

MeSH ⁴⁴ D012779

ICD10 ³² Q77.2

MedGen ⁴¹ C4225378 CN229499

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Summaries for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

UniProtKB/Swiss-Prot : ⁷³ Short-rib thoracic dysplasia 13 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

MalaCards based summary : Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly, also known as srtd13, is related to orofaciodigital syndrome vi and short-rib thoracic dysplasia 6 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly is CEP120 (Centrosomal Protein 120). Affiliated tissues include eye, pancreas and tongue, and related phenotypes are respiratory insufficiency and coarse facial features

Disease Ontology : ¹² An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.

More information from OMIM: 616300 PS208500

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Related Diseases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly	Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	orofaciodigital syndrome vi	9.9	KIAA0753 CEP120
2	short-rib thoracic dysplasia 6 with or without polydactyly	9.8	CFAP410 CEP120
3	short-rib thoracic dysplasia 1 with or without polydactyly	9.8	KIAA0753 CEP120
4	short-rib thoracic dysplasia 3 with or without polydactyly	9.8	CFAP410 CEP120
5	asphyxiating thoracic dystrophy	9.6	KIAA0753 CFAP410 CEP120
6	undetermined early-onset epileptic encephalopathy	9.5	SLC13A5 KIAA0753
7	fundus dystrophy	9.4	KIAA0753 CFAP410 CEP120
8	developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	8.9	SLC13A5 KIAA0753 GNAS CFAP410 CEP120

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

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Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

³¹ (show all 38)

#	Description	HPO Source Accession
1	respiratory insufficiency ³¹	HP:0002093
2	coarse facial features ³¹	HP:0000280
3	hypertelorism ³¹	HP:0000316
4	macrotia ³¹	HP:0000400
5	cleft palate ³¹	HP:0000175
6	cryptorchidism ³¹	HP:0000028
7	anal atresia ³¹	HP:0002023
8	microphthalmia ³¹	HP:0000568
9	patent ductus arteriosus ³¹	HP:0001643
10	dandy-walker malformation ³¹	HP:0001305
11	renal hypoplasia ³¹	HP:0000089
12	narrow chest ³¹	HP:0000774
13	microretrognathia ³¹	HP:0000308
14	midface retrusion ³¹	HP:0011800
15	ambiguous genitalia ³¹	HP:0000062
16	cerebellar hypoplasia ³¹	HP:0001321
17	omphalocele ³¹	HP:0001539
18	encephalocele ³¹	HP:0002084
19	pulmonary hypoplasia ³¹	HP:0002089
20	prominent nose ³¹	HP:0000448
21	rhizomelia ³¹	HP:0008905
22	squared iliac bones ³¹	HP:0003177
23	molar tooth sign on mri ³¹	HP:0002419
24	relative macrocephaly ³¹	HP:0004482
25	renal cyst ³¹	HP:0000107
26	bifid tongue ³¹	HP:0010297
27	bell-shaped thorax ³¹	HP:0001591
28	short ribs ³¹	HP:0000773
29	flat acetabular roof ³¹	HP:0003180
30	natal tooth ³¹	HP:0000695
31	hypoplastic pelvis ³¹	HP:0008839
32	lobulated tongue ³¹	HP:0000180
33	horizontal ribs ³¹	HP:0000888
34	preaxial polydactyly ³¹	HP:0100258
35	postaxial polydactyly ³¹	HP:0100259
36	cleft lip ³¹	HP:0410030
37	hypoplastic facial bones ³¹	HP:0002692
38	unicoronal synostosis ³¹	HP:0011315

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Respiratory Lung:
respiratory insufficiency
hypoplastic lungs

Head And Neck Mouth:
cleft palate
mild cleft lip (notch)
tongue hamartoma (lobulated tongue)
partially bifid tongue
multiple lingual frenula

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
microretrognathia
midface hypoplasia
coarse facies

Abdomen External Features:
omphalocele

Chest External Features:
bell-shaped thorax
narrow thorax

Skeletal Hands:
preaxial polydactyly
synpolydactyly
postaxial polydactyly (unilateral, in 1 patient)
severely hypoplastic middle and distal phalanges

Skeletal Limbs:
rhizomelic limb shortening
micromelic short limbs
round-ended femur bones
small tibia
small fibula

Head And Neck Teeth:
natal teeth

Head And Neck Nose:
large nose
prominent nostrils

Skeletal Feet:
synpolydactyly
hallux deformity

Skeletal Skull:
small facial bones

Head And Neck Eyes:
hypertelorism
microphthalmia
scant eyebrows

Abdomen Gastrointestinal:
anal atresia

Neurologic Central Nervous System:
dandy-walker malformation
cerebellar hypoplasia
enlarged posterior fossa
molar tooth sign
unilateral coronal craniosynostosis
more

Genitourinary External Genitalia Male:
ambiguous genitalia
phallus-like structure
prominent prepuce

Head And Neck Head:
relative macrocephaly

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs

Head And Neck Ears:
large ears
prominent lobules

Genitourinary Kidneys:
small kidneys
cystic kidneys
increased echogenicity on ultrasound

Skeletal Pelvis:
small pelvis
horizontal acetabular roof
dysplastic pelvic bone
flaring of iliac bones
small, squared iliac bones
more

Genitourinary Internal Genitalia Male:
undescended testes

Growth Height:
short stature at birth

Clinical features from OMIM®:

616300 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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Genetic Tests for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

#	Genetic test	Affiliating Genes
1	Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly ²⁹	CEP120

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Anatomical Context for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

⁴⁰

Eye, Pancreas, Tongue, Bone, Testes

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Publications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

#	Title	Authors	PMID	Year
1	Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. ⁶ ⁵⁷	Roosing S...Valente EM	27208211	2016
2	A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. ⁶ ⁵⁷	Shaheen R...Alkuraya FS	25361962	2015

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Genes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Genes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CEP120	Centrosomal Protein 120	Protein Coding	1353.07	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25361962 27208211
2	KIAA0753	KIAA0753	Protein Coding	7.56	DISEASES inferred ¹⁵
3	CFAP410	Cilia And Flagella Associated Protein 410	Protein Coding	5.81	DISEASES inferred ¹⁵
4	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	5.66	DISEASES inferred ¹⁵
5	GNAS	GNAS Complex Locus	Protein Coding	4.5	DISEASES inferred ¹⁵

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Variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

⁶ (show all 43)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CEP120	NM_153223.3(CEP120):c.595G>C (p.Ala199Pro)	SNV	Pathogenic	189370	rs367600930	5:122734847-122734847	5:123399153-123399153
2	CEP120	NM_153223.3(CEP120):c.451C>T (p.Arg151Ter)	SNV	Pathogenic	446142	rs757499322	5:122748105-122748105	5:123412411-123412411
3	CEP120	NM_153223.3(CEP120):c.2924T>G (p.Ile975Ser)	SNV	Pathogenic	446143	rs1554098663	5:122682250-122682250	5:123346556-123346556
4	CEP120	NM_153223.3(CEP120):c.2323C>T (p.Gln775Ter)	SNV	Likely pathogenic	623651	rs759125480	5:122713103-122713103	5:123377409-123377409
5	CEP120	NM_153223.3(CEP120):c.226A>G (p.Lys76Glu)	SNV	Uncertain significance	623652	rs1311902826	5:122751799-122751799	5:123416105-123416105
6	CEP120	NM_153223.3(CEP120):c.1180C>T (p.Pro394Ser)	SNV	Uncertain significance	642185	rs200450605	5:122725693-122725693	5:123389999-123389999
7	CEP120	NM_153223.3(CEP120):c.1391A>T (p.His464Leu)	SNV	Uncertain significance	644511	rs776098623	5:122724165-122724165	5:123388471-123388471
8	CEP120	NM_153223.3(CEP120):c.1721G>A (p.Arg574His)	SNV	Uncertain significance	652583	rs367748337	5:122720687-122720687	5:123384993-123384993
9	CEP120	NM_153223.3(CEP120):c.2237G>A (p.Arg746Gln)	SNV	Uncertain significance	661929	rs375645626	5:122713189-122713189	5:123377495-123377495
10	CEP120	NM_153223.3(CEP120):c.802A>G (p.Lys268Glu)	SNV	Uncertain significance	662704	rs1421931952	5:122729002-122729002	5:123393308-123393308
11	CEP120	NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu)	SNV	Uncertain significance	837506		5:122729025-122729025	5:123393331-123393331
12	CEP120	NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala)	SNV	Uncertain significance	839155		5:122748198-122748198	5:123412504-123412504
13	CEP120	NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu)	SNV	Uncertain significance	854283		5:122708407-122708407	5:123372713-123372713
14	CEP120	NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr)	SNV	Uncertain significance	863313		5:122751805-122751805	5:123416111-123416111
15	CEP120	NM_001375405.1(CEP120):c.499A>G (p.Ile167Val)	SNV	Uncertain significance	863314		5:122734943-122734943	5:123399249-123399249
16	CEP120	NM_001375405.1(CEP120):c.253G>A (p.Val85Ile)	SNV	Uncertain significance	939659		5:122751772-122751772	5:123416078-123416078
17	CEP120	NM_001375405.1(CEP120):c.1832G>A (p.Arg611His)	SNV	Uncertain significance	942076		5:122718708-122718708	5:123383014-123383014
18	CEP120	NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe)	SNV	Uncertain significance	942866		5:122724223-122724223	5:123388529-123388529
19	CEP120	NM_153223.3(CEP120):c.1038+6T>C	SNV	Uncertain significance	423654	rs1064796555	5:122726798-122726798	5:123391104-123391104
20	CEP120	NM_153223.3(CEP120):c.52C>T (p.Arg18Trp)	SNV	Uncertain significance	423655	rs371099291	5:122754207-122754207	5:123418513-123418513
21	CEP120	NM_001375405.1(CEP120):c.827G>A (p.Gly276Glu)	SNV	Uncertain significance	944968		5:122727015-122727015	5:123391321-123391321
22	CEP120	NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe)	SNV	Uncertain significance	964515		5:122726808-122726808	5:123391114-123391114
23	CEP120	NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)	SNV	Uncertain significance	972143		5:122725754-122725754	5:123390060-123390060
24	CEP120	NM_153223.3(CEP120):c.278G>A (p.Gly93Asp)	SNV	Uncertain significance	476165	rs1554106320	5:122751747-122751747	5:123416053-123416053
25	CEP120	NM_153223.3(CEP120):c.2647C>T (p.Arg883Cys)	SNV	Uncertain significance	542763	rs140306974	5:122685717-122685717	5:123350023-123350023
26	CEP120	NM_153223.3(CEP120):c.1274C>G (p.Ala425Gly)	SNV	Uncertain significance	542764	rs1196167686	5:122724282-122724282	5:123388588-123388588
27	CEP120	NM_153223.3(CEP120):c.469G>A (p.Ala157Thr)	SNV	Uncertain significance	566211	rs1379324177	5:122734973-122734973	5:123399279-123399279
28	CEP120	NM_153223.3(CEP120):c.409A>G (p.Lys137Glu)	SNV	Uncertain significance	571693	rs200983311	5:122748147-122748147	5:123412453-123412453
29	CEP120	NM_153223.3(CEP120):c.1831C>G (p.Arg611Gly)	SNV	Uncertain significance	572777	rs150132498	5:122718709-122718709	5:123383015-123383015
30	CEP120	NM_153223.3(CEP120):c.1684A>G (p.Thr562Ala)	SNV	Uncertain significance	577784	rs147277049	5:122720724-122720724	5:123385030-123385030
31	CEP120	NM_153223.3(CEP120):c.2359-8T>A	SNV	Likely benign	476164	rs570367630	5:122708474-122708474	5:123372780-123372780
32	CEP120	NM_153223.3(CEP120):c.402C>T (p.Thr134=)	SNV	Likely benign	476167	rs143893793	5:122748154-122748154	5:123412460-123412460
33	CEP120	NM_001375405.1(CEP120):c.1113G>A (p.Lys371=)	SNV	Likely benign	713069	rs375230630	5:122725760-122725760	5:123390066-123390066
34	CEP120	NM_153223.3(CEP120):c.1105C>T (p.Pro369Ser)	SNV	Benign	476160	rs61747983	5:122725768-122725768	5:123390074-123390074
35	CEP120	NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe)	SNV	Benign	446145	rs114280473	5:122714092-122714092	5:123378398-123378398
36	CEP120	NM_153223.3(CEP120):c.1431-10_1431-9del	Deletion	Benign	476161	rs1491225681	5:122722370-122722371	5:123386676-123386677
37	CEP120	NM_153223.3(CEP120):c.2182A>G (p.Ser728Gly)	SNV	Benign	476163	rs61744334	5:122714044-122714044	5:123378350-123378350
38	CEP120	NM_153223.3(CEP120):c.362A>G (p.Lys121Arg)	SNV	Benign	476166	rs147273517	5:122748194-122748194	5:123412500-123412500
39	CEP120	NM_153223.3(CEP120):c.1671G>A (p.Leu557=)	SNV	Benign	476162	rs75289011	5:122720737-122720737	5:123385043-123385043
40	CEP120	NM_153223.3(CEP120):c.2145T>C (p.Thr715=)	SNV	Benign	542765	rs113911260	5:122714081-122714081	5:123378387-123378387
41	CEP120	NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)	SNV	Benign	707477	rs114281792	5:122725761-122725761	5:123390067-123390067
42	CEP120	NM_001375405.1(CEP120):c.779G>A (p.Arg260His)	SNV	Benign	707490	rs189429890	5:122729025-122729025	5:123393331-123393331
43	CEP120	NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT	Insertion	Benign	710429	rs1562047830	5:122722369-122722370	5:123386675-123386676

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CEP120	p.Ala199Pro	VAR_073672	rs367600930

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Expression for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly.

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Pathways for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

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GO Terms for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	centriole	GO:0005814	8.62	KIAA0753 CEP120

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⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

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⁶⁴ R&D Systems

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⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (SRTD13)

Aliases & Classifications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Related Diseases for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Anatomical Context for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Publications for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Genes for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Genes related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly (1 elite genes):

Variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly:

Expression for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Pathways for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly according to GeneCards Suite gene sharing:

Sources for Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly