TaoMedAI/RareMedData huggingface dataset:
Gene: HOXA13
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Strabismus (HP:0000486)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Small nail (HP:0001792)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short 2nd toe (HP:0001885)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Short 2nd toe (HP:0001885)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Esophoria (HP:0025312)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Open mouth (HP:0000194)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Nonprogressive (HP:0003680)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Short nose (HP:0003196)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: High palate (HP:0000218)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Broad forehead (HP:0000337)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Micrognathia (HP:0000347)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Short philtrum (HP:0000322)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXB1
Phenotype: Esotropia (HP:0000565)
Associated disease: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
Gene: HOXC13
Phenotype: Abnormal sebaceous gland morphology (HP:0032226)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Atrichia (HP:0500262)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Absent hair (HP:0002298)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Onycholysis of fingernails (HP:0040039)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Abnormal sweat gland morphology (HP:0000971)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Concave nail (HP:0001598)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Small nail (HP:0001792)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXC13
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE (OMIM:614931)
Gene: HOXD10
Phenotype: Arthritis (HP:0001369)
Associated disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Gene: HOXD10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Gene: HOXD10
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Gene: HOXD10
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Gene: HOXD10
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: VERTICAL TALUS, CONGENITAL (OMIM:192950)
Gene: HOXD13
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Syndactyly (HP:0001159)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Y-shaped metacarpals (HP:0006042)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: 3-4 finger osseus syndactyly (HP:0006097)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Hypospadias (HP:0000047)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Moderately short stature (HP:0008848)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Enlarged proximal interphalangeal joints (HP:0006185)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRACHYDACTYLY, TYPE D (OMIM:113200)
Gene: HOXD13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Oligodactyly (HP:0012165)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Cleft palate (HP:0000175)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Renal agenesis (HP:0000104)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Anal atresia (HP:0002023)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Upper limb asymmetry (HP:0100560)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Short digit (HP:0011927)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Short fifth metatarsal (HP:0004704)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: Congenital onset (HP:0003577)
Associated disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Gene: HOXD13
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Gene: HOXD13
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated disease: BRACHYDACTYLY, TYPE D (OMIM:113200)
Gene: HOXD13
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Anencephaly (HP:0002323)
Associated disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Gene: HOXD13
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Gene: HOXD13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXD13
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Gene: HOXD13
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: SYNDACTYLY, TYPE V (OMIM:186300)
Gene: HOXD13
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Brachydactyly type E (ORPHA:93387)
Gene: HOXD13
Phenotype: Short metatarsal (HP:0010743)
Associated disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Gene: HOXD13
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXD13
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)