Disease: Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Name Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Synonyms -

Classification abdominal surgical, bone, developmental, genetic, respiratory

Phenotypes Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of the metaphysis; Absent or minimally ossified vertebral bodies; Agenesis of corpus callosum; Ambiguous genitalia; Anal atresia; Bifid epiglottis; Bifid tongue; Cataract; Cerebellar hypoplasia; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Disproportionate short-limb short stature; Ectopic anus; Epicanthus; Esophageal atresia; Facial cleft; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Omphalocele; Postaxial hand polydactyly; Preaxial hand polydactyly; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Short foot; Short palm; Short ribs; Short thorax; Urethrovaginal fistula; Uterus didelphys; Wide nose

Associated Genes WDR35 (Withdrawn symbols: FAP118, IFT121, IFTA1, KIAA1336, MGC33196 ) , WDR34 (Withdrawn symbols: CFAP133, DIC5, FAP133, MGC20486, bA216B9.3 ) , WDR60 (Withdrawn symbols: CFAP163, DIC6, FAP163, FLJ10300 ) , IFT80 (Withdrawn symbols: FAP167, KIAA1374, WDR56 ) , DYNC2H1 (Withdrawn symbols: DHC1b, DHC2, DNCH2, DYH1B, hdhc11 )

Mouse Orthologs Wdr35 (Withdrawn symbols: 4930459M12Rik ) , Wdr34 (Withdrawn symbols: 3200002I06Rik ) , Wdr60 (Withdrawn symbols: D430033N04Rik ) , Ift80 (Withdrawn symbols: 4921524P20Rik, Wdr56 ) , Dync2h1 (Withdrawn symbols: 4432416O06Rik, AI448217, D030010H02Rik, D330044F14Rik, Dnchc2, b2b414Clo, m152Asp, m407Asp )

Source ORPHA:93271 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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