TaoMedAI/RareMedData huggingface dataset:
Gene: GRIP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Ureteral agenesis (HP:0012300)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Malformed lacrimal duct (HP:0007993)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Wide nose (HP:0000445)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Midline nasal groove (HP:0004112)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: GRIP1
Phenotype: Short toe (HP:0001831)
Associated disease: FRASER SYNDROME 3 (OMIM:617667)
Gene: GRIP1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: AP4E1
Phenotype: Poor speech (HP:0002465)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Excessive shyness (HP:0100962)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Stuttering (HP:0025268)
Associated disease: STUTTERING, FAMILIAL PERSISTENT, 1 (OMIM:184450)
Gene: AP4E1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Seizure (HP:0001250)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Spasticity (HP:0001257)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Waddling gait (HP:0002515)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Dystonia (HP:0001332)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STUTTERING, FAMILIAL PERSISTENT, 1 (OMIM:184450)
Gene: AP4E1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Wide mouth (HP:0000154)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Wide mouth (HP:0000154)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Babinski sign (HP:0003487)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Drooling (HP:0002307)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Amblyopia (HP:0000646)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Amblyopia (HP:0000646)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Short stature (HP:0004322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Childhood onset (HP:0011463)
Associated disease: STUTTERING, FAMILIAL PERSISTENT, 1 (OMIM:184450)
Gene: AP4E1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Long nose (HP:0003189)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Narrow face (HP:0000275)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Microcephaly (HP:0000252)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: High palate (HP:0000218)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Overweight (HP:0025502)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Overweight (HP:0025502)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Short philtrum (HP:0000322)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Short philtrum (HP:0000322)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Pointed chin (HP:0000307)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Strabismus (HP:0000486)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Pes planus (HP:0001763)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: AP4 deficiency syndrome; Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
Gene: AP4E1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: AP4E1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Gene: GPR161
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: GPR161
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: GPR161
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: GPR161
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: GPR161
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Short stature (HP:0004322)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPR161
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPR161
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: GPR161
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)