TaoMedAI/RareMedData huggingface dataset:
Gene: GNRHR
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Sparse body hair (HP:0002231)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Impotence (HP:0000802)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Gynecomastia (HP:0000771)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Anxiety (HP:0000739)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Depression (HP:0000716)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: GNRHR
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Osteoporosis (HP:0000939)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Osteopenia (HP:0000938)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Increased female libido (HP:0030019)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Camptodactyly (HP:0012385)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNRHR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: GNS
Phenotype: Broad palm (HP:0001169)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Oppositional defiant disorder (HP:0010865)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Seizure (HP:0001250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Dysarthria (HP:0001260)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Absent speech (HP:0001344)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Wide mouth (HP:0000154)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Diarrhea (HP:0002014)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Ovoid thoracolumbar vertebrae (HP:0003309)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Progressive (HP:0003676)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hirsutism (HP:0001007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Cellular metachromasia (HP:0003653)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Tube feeding (HP:0033454)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Pilonidal sinus (HP:0010769)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Drooling (HP:0002307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Sleep-wake inversion (HP:0031849)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Synophrys (HP:0000664)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Restlessness (HP:0000711)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Agitation (HP:0000713)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Thickened ribs (HP:0000900)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts (HP:4000198)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Pes cavus (HP:0001761)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Visual impairment (HP:0000505)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIID (OMIM:252940)
Gene: GNS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GOLGA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES (OMIM:620240)