TaoMedAI/RareMedData huggingface dataset:
Gene: PI4KA
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Infantile onset (HP:0003593)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Esodeviation (HP:0020045)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Paraparesis (HP:0002385)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Drooling (HP:0002307)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Perisylvian predominant thick cortex pachygyria (HP:0020190)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Nystagmus (HP:0000639)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Antenatal onset (HP:0030674)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Childhood onset (HP:0011463)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Fetal onset (HP:0011461)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Absent uvula (HP:0010292)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Absent uvula (HP:0010292)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Hip contracture (HP:0003273)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Crohn's disease (HP:0100280)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Sparse hair (HP:0008070)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Kyphosis (HP:0002808)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Microcephaly (HP:0000252)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Omphalocele (HP:0001539)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Aspiration (HP:0002835)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Jejunoileal ulceration (HP:0005229)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Rectal abscess (HP:0005224)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Micrognathia (HP:0000347)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Micrognathia (HP:0000347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Micrognathia (HP:0000347)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Interstitial emphysema (HP:0032965)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Focal sensory seizure (HP:0011157)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Unilateral wrist flexion contracture (HP:0012454)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Gene: PI4KB
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Gene: PI4KB
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Gene: PI4KB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Gene: PI4KB
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 87 (OMIM:620281)
Gene: PITX1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Stillbirth (HP:0003826)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Absent tibia (HP:0009556)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Mirror image foot polydactyly (HP:0010691)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Short stature (HP:0004322)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)