TaoMedAI/RareMedData huggingface dataset:
Gene: CPAP
Phenotype: Low-set ears (HP:0000369)
Associated disease: SECKEL SYNDROME 4 (OMIM:613676)
Gene: CPAP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CPAP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPAP
Phenotype: High forehead (HP:0000348)
Associated disease: SECKEL SYNDROME 4 (OMIM:613676)
Gene: CPAP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CPAP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
Gene: CPAP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPAP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Strabismus (HP:0000486)
Associated disease: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
Gene: CPAP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CPAP
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
Gene: CPAP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CPAP
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: SECKEL SYNDROME 4 (OMIM:613676)
Gene: CPAP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CPAP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPAP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CPAP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CPAP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPAP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PSENEN
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Arthritis (HP:0001369)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Progressive reticulate hyperpigmentation (HP:0007456)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Hyperpigmented papule (HP:0025473)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Digital pitting scar (HP:0031293)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Heat intolerance (HP:0002046)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Palmar pits (HP:0010610)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Hypopigmented macule (HP:0020073)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Mixed hypo- and hyperpigmentation of the skin (HP:0009123)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Scrotal hyperpigmentation (HP:0012855)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Pruritus (HP:0000989)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Acne inversa (HP:0040154)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Acne inversa (HP:0040154)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Inguinal freckling (HP:0030052)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Keratoacanthoma (HP:0031525)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Penile freckling (HP:0031447)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Perifolliculitis (HP:0012322)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Chronic furunculosis (HP:0011132)
Associated disease: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE (OMIM:613736)
Gene: PSENEN
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Anal margin squamous cell carcinoma (HP:0030442)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: PSENEN
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Gene: KIZ
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Perifoveal hypoautofluorescence (HP:0034272)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 69 (OMIM:615780)
Gene: KIZ
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIZ
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIZ
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM165
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TMEM165
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM165
Phenotype: Diaphyseal dysplasia (HP:0100252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk (OMIM:614727)
Gene: TMEM165
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)