TaoMedAI/RareMedData huggingface dataset:
Gene: FGF20
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Low-set ears (HP:0000369)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: FGF20
Phenotype: Anhydramnios (HP:0025700)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 2 (OMIM:615721)
Gene: ERAL1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Streak ovary (HP:0010464)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: ERAL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PERRAULT SYNDROME 6 (OMIM:617565)
Gene: HSPB8
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Paralysis (HP:0003470)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA (OMIM:158590)
Gene: HSPB8
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: HSPB8
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (OMIM:608673)
Gene: SLC17A5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Seizure (HP:0001250)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Seizure (HP:0001250)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Ataxia (HP:0001251)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Spasticity (HP:0001257)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Inability to walk (HP:0002540)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Death in childhood (HP:0003819)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Fair hair (HP:0002286)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Athetosis (HP:0002305)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Nystagmus (HP:0000639)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Nystagmus (HP:0000639)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Osteopenia (HP:0000938)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Epicanthus (HP:0000286)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: High palate (HP:0000218)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Ascites (HP:0001541)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Growth delay (HP:0001510)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Premature birth (HP:0001622)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC17A5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Ptosis (HP:0000508)
Associated disease: INFANTILE SIALIC ACID STORAGE DISEASE (OMIM:269920)
Gene: SLC17A5
Phenotype: Exotropia (HP:0000577)
Associated disease: SALLA DISEASE (OMIM:604369)
Gene: SLC17A5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC17A5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CNNM4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Macular atrophy (HP:0007401)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Enamel agenesis (HP:0033785)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Yellow-brown discoloration of the teeth (HP:0006286)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Infantile onset (HP:0003593)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: High hypermetropia (HP:0008499)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Photophobia (HP:0000613)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Carious teeth (HP:0000670)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy-amelogenesis imperfecta syndrome; Jalili syndrome (ORPHA:1873)
Gene: CNNM4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: JALILI SYNDROME (OMIM:217080)
Gene: CNNM4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CNNM4
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: JALILI SYNDROME (OMIM:217080)