TaoMedAI/RareMedData huggingface dataset:
Gene: PNPLA6
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Short stature (HP:0004322)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Short stature (HP:0004322)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Personality changes (HP:0000751)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Dementia (HP:0000726)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Childhood onset (HP:0011463)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Young adult onset (HP:0011462)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Sparse hair (HP:0008070)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Epicanthus (HP:0000286)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Alopecia (HP:0001596)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Alopecia (HP:0001596)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Growth delay (HP:0001510)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Obesity (HP:0001513)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Obesity (HP:0001513)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Obesity (HP:0001513)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Central heterochromia (HP:0007818)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: High myopia (HP:0011003)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Strabismus (HP:0000486)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Pes cavus (HP:0001761)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Cataract (HP:0000518)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Long eyelashes (HP:0000527)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Myopia (HP:0000545)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: EDAR
Phenotype: Periorbital hyperpigmentation (HP:0001106)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Hypohidrotic ectodermal dysplasia (HP:0007607)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Sparse body hair (HP:0002231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Fine hair (HP:0002213)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Fine hair (HP:0002213)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Conical tooth (HP:0000698)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Anodontia (HP:0000674)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Anodontia (HP:0000674)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Oligodontia (HP:0000677)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Hypodontia (HP:0000668)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Hypodontia (HP:0000668)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Childhood onset (HP:0011463)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Dry skin (HP:0000958)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Dry skin (HP:0000958)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Anhidrosis (HP:0000970)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDAR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDAR
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Thin skin (HP:0000963)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Sparse hair (HP:0008070)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDAR
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDAR
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)