PedAM

Pediatric Disease Annotations & Medicines


	image syndrome

Disease ID	686
Disease	image syndrome
Synonym	intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Orphanet	ORPHANET:85173
OMIM	OMIM:614732
DOID	DOID:0050885
UMLS	C1846009
SNOMED-CT	SNOMEDCT_US_2016_09_01:702384004
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CDKN1C \| 1028 \| CLINVAR;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:20) 7051 \| TGM1 \| DISEASES 1666 \| DECR1 \| DISEASES 4173 \| MCM4 \| DISEASES 5862 \| RAB2A \| DISEASES 23530 \| NNT \| DISEASES 5443 \| POMC \| DISEASES 1583 \| CYP11A1 \| DISEASES 63976 \| PRDM16 \| DISEASES 6770 \| STAR \| DISEASES 431707 \| LHX8 \| DISEASES 1241 \| LTB4R \| DISEASES 706 \| TSPO \| DISEASES 4158 \| MC2R \| DISEASES 8879 \| SGPL1 \| DISEASES 190 \| NR0B1 \| DISEASES 54809 \| SAMD9 \| DISEASES 26468 \| LHX6 \| DISEASES 10587 \| TXNRD2 \| DISEASES 1028 \| CDKN1C \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CDKN1C \| 11p15.4

Disease ID	686
Disease	image syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0000126 \| Hydronephrosis HP:0000078 \| Abnormality of the genital system HP:0000369 \| Low-set ears HP:0001511 \| Intrauterine growth retardation HP:0002007 \| Frontal bossing HP:0100255 \| Metaphyseal dysplasia HP:0000047 \| Hypospadias HP:0005280 \| Depressed nasal bridge HP:0002983 \| Micromelia HP:0000028 \| Cryptorchidism HP:0000135 \| Hypogonadism HP:0000835 \| Adrenal hypoplasia HP:0001252 \| Muscular hypotonia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000089 \| Small kidneys \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0008244 \| Congenital adrenal gland hypoplasia \| 1

Disease ID	686
Disease	image syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs318240750	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884119	C	G,A
rs387907223	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884129	A	C
rs387907224	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884128	A	G
rs387907225	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884670	C	T
rs387907226	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884123	T	C
rs515726203	NA	1028	CDKN1C	umls:C1846009	CLINVAR	NA	0.361628651	NA	CDKN1C	11	2884675	A	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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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