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encyclopedia of Rare Disease Annotation for Precision Medicine

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	asphyxiating thoracic dystrophy

Disease ID	840
Disease	asphyxiating thoracic dystrophy
Definition	A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure.
Synonym	asphyxiating thoracic chondrodystrophy asphyxiating thoracic dysplasia asphyxiating thoracic dysplasia (disorder) asphyxiating thoracic dystrophy (atd) asphyxiating thoracic dystrophy 1 atd1 chondroectodermal dysplasia-like syndrome infantile thoracic dystrophy jeune syndrome jeune thoracic dysplasia jeune thoracic dystrophy jeune thoracic dystrophy (disorder) jeune's syndrome jeunes syndrome short-rib thoracic dysplasia 1 with or without polydactyly srtd1 thoracic asphyxiant dystrophy thoracic pelvic phalangeal dystrophy thoracic-pelvic-phalangeal dystrophy
Orphanet	ORPHANET:474
OMIM	OMIM:208500
DOID	DOID:0050592
UMLS	C0265275
SNOMED-CT	SNOMEDCT_US_2016_09_01:75049004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C1145670 \| respiratory failure \| 2
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 26160 \| IFT172 \| ORPHANET 89891 \| WDR34 \| ORPHANET 57728 \| WDR19 \| ORPHANET 9742 \| IFT140 \| ORPHANET 79659 \| DYNC2H1 \| ORPHANET 79809 \| TTC21B \| CTD_human;ORPHANET 57560 \| IFT80 \| GHR;ORPHANET;UNIPROT 153241 \| CEP120 \| ORPHANET 55112 \| WDR60 \| ORPHANET 465 \| ATD \| CTD_human;OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:45) 26090 \| ABHD12 \| 3.042 \| DISEASES 55750 \| AGK \| 2.763 \| DISEASES 199 \| AIF1 \| 1.813 \| DISEASES 200894 \| ARL13B \| 4.44 \| DISEASES 755 \| C21orf2 \| 3.735 \| DISEASES 26005 \| C2CD3 \| 4.066 \| DISEASES 57545 \| CC2D2A \| 2.968 \| DISEASES 80184 \| CEP290 \| 2.05 \| DISEASES 1120 \| CHKB \| 2.738 \| DISEASES 113612 \| CYP2U1 \| 3.227 \| DISEASES 23564 \| DDAH2 \| 2.278 \| DISEASES 80821 \| DDHD1 \| 3.402 \| DISEASES 23259 \| DDHD2 \| 3.153 \| DISEASES 79659 \| DYNC2H1 \| 6.604 \| DISEASES 2108 \| ETFA \| 2.438 \| DISEASES 132884 \| EVC2 \| 3.169 \| DISEASES 342184 \| FMN1 \| 2.143 \| DISEASES 2305 \| FOXM1 \| 2.875 \| DISEASES 9573 \| GDF3 \| 2.581 \| DISEASES 2736 \| GLI2 \| 3.028 \| DISEASES 2737 \| GLI3 \| 2.284 \| DISEASES 2804 \| GOLGB1 \| 2.061 \| DISEASES 9742 \| IFT140 \| 5.385 \| DISEASES 9371 \| KIF3B \| 3.304 \| DISEASES 4750 \| NEK1 \| 3.247 \| DISEASES 4882 \| NPR2 \| 2.535 \| DISEASES 8481 \| OFD1 \| 2.515 \| DISEASES 5297 \| PI4KA \| 3.386 \| DISEASES 10908 \| PNPLA6 \| 1.863 \| DISEASES 282809 \| POC1B \| 3.797 \| DISEASES 221823 \| PRPS1L1 \| 3.094 \| DISEASES 9791 \| PTDSS1 \| 5.275 \| DISEASES 5745 \| PTH1R \| 1.7 \| DISEASES 23322 \| RPGRIP1L \| 2.309 \| DISEASES 6188 \| RPS3 \| 3.09 \| DISEASES 388015 \| RTL1 \| 1.415 \| DISEASES 22908 \| SACM1L \| 3.091 \| DISEASES 84947 \| SERAC1 \| 2.819 \| DISEASES 29072 \| SETD2 \| 1.682 \| DISEASES 255758 \| TCTEX1D2 \| 5.915 \| DISEASES 79600 \| TCTN1 \| 4.457 \| DISEASES 91147 \| TMEM67 \| 2.623 \| DISEASES 57728 \| WDR19 \| 4.755 \| DISEASES 89891 \| WDR34 \| 4.837 \| DISEASES 55112 \| WDR60 \| 5.195 \| DISEASES
Locus	(Waiting for update.)

Disease ID	840
Disease	asphyxiating thoracic dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002878 \| Respiratory failure \| 2 HP:0001999 \| Facial dysmorphism \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0002983 \| Micromelia \| 1 HP:0005257 \| Small chest \| 1 HP:0000773 \| Rib hypoplasia \| 1 HP:0000774 \| Low chest circumference \| 1

Disease ID	840
Disease	asphyxiating thoracic dystrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1963137 \| hydrocephalus
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1145670 \| respiratory failure \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387906980	25044745	57728	WDR19	umls:C0265275	BeFree	The phenotype associated with homozygous p.Arg106ProPOC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome.	0.120271442	2014	WDR19	4	39231943	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	840
Disease	asphyxiating thoracic dystrophy
Case	(Waiting for update.)

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