TaoMedAI/RareMedData huggingface dataset:
Gene: RIPK4
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Mask-like facies (HP:0000298)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Alopecia (HP:0001596)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Cicatricial lagophthalmos (HP:0030004)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Imperforate hymen (HP:0030011)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Omphalocele (HP:0001539)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Cupped ear (HP:0000378)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Low-set ears (HP:0000369)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Micrognathia (HP:0000347)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Curly hair-ankyloblepharon-nail dysplasia syndrome; CHAND syndrome; Baughman syndrome; CHANDS (ORPHA:1401)
Gene: RIPK4
Phenotype: Small nail (HP:0001792)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Short neck (HP:0000470)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Anonychia (HP:0001798)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: RIPK4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Ablepharon (HP:0011224)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BARTSOCAS-PAPAS SYNDROME (OMIM:263650)
Gene: RIPK4
Phenotype: Talipes (HP:0001883)
Associated disease: Autosomal recessive popliteal pterygium syndrome; Lethal popliteal pterygium syndrome; Bartsocas-Papas syndrome (ORPHA:1234)
Gene: GPR88
Phenotype: Poor speech (HP:0002465)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Chorea (HP:0002072)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: GPR88
Phenotype: Involuntary movements (HP:0004305)
Associated disease: CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
Gene: MRPL39
Phenotype: CNS demyelination (HP:0007305)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Vomiting (HP:0002013)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Migraine (HP:0002076)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Apnea (HP:0002104)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Cerebral edema (HP:0002181)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Apathy (HP:0000741)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: MRPL39
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Gene: NANS
Phenotype: Simple ear (HP:0020206)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Motor delay (HP:0001270)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Seizure (HP:0001250)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Ataxia (HP:0001251)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Hirsutism (HP:0001007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Synophrys (HP:0000664)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Long fibula (HP:0003085)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Epicanthus (HP:0000286)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Metaphyseal striations (HP:0031367)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)