TaoMedAI/RareMedData huggingface dataset:
Gene: HOXA11
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Purpura (HP:0000979)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Petechiae (HP:0000967)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Proximal radio-ulnar synostosis (HP:0005037)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Radial bowing (HP:0002986)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HPCA
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Tremor (HP:0001337)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Torsion dystonia (HP:0001304)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Slowly progressive (HP:0003677)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HPCA
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Torticollis (HP:0000473)
Associated disease: Primary dystonia, DYT2 type; DYT2 (ORPHA:99657)
Gene: HPCA
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (OMIM:224500)
Gene: HOXA13
Phenotype: Brachydactyly (HP:0001156)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Microtia (HP:0008551)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Longitudinal vaginal septum (HP:0008740)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Chordee (HP:0000041)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Micropenis (HP:0000054)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Hypospadias (HP:0000047)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Hypospadias (HP:0000047)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Delayed tarsal ossification (HP:0008103)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Pseudoepiphyses (HP:0010584)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short thumb (HP:0009778)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Short thumb (HP:0009778)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Abnormality of the urethra (HP:0000795)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Short hallux (HP:0010109)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Short hallux (HP:0010109)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Short first metatarsal (HP:0010105)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Short first metatarsal (HP:0010105)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Short 5th finger (HP:0009237)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Short 5th finger (HP:0009237)
Associated disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Gene: HOXA13
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Sacral dimple (HP:0000960)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Hallux varus (HP:0008080)
Associated disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Gene: HOXA13
Phenotype: Hallux varus (HP:0008080)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA13
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Miscarriage (HP:0005268)
Associated disease: HFGS; Hand-foot-genital syndrome; Hand-foot-uterus syndrome (ORPHA:2438)
Gene: HOXA13
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA13
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)