TaoMedAI/RareMedData huggingface dataset:
Gene: CDH2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME (OMIM:618929)
Gene: CDH2
Phenotype: Telecanthus (HP:0000506)
Associated disease: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME (OMIM:618929)
Gene: CDH2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME (OMIM:618929)
Gene: CDH3
Phenotype: Split hand (HP:0001171)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Pili torti (HP:0003777)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Pili torti (HP:0003777)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Macular atrophy (HP:0007401)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Reduced terminal:vellus ratio (HP:0032497)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Freckling (HP:0001480)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Sparse body hair (HP:0002231)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Fine hair (HP:0002213)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: 1-4 finger cutaneous syndactyly (HP:0010707)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Brittle hair (HP:0002299)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: 3-4 toe syndactyly (HP:0009779)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Blindness (HP:0000618)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Blindness (HP:0000618)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Microdontia (HP:0000691)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Microdontia (HP:0000691)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Carious teeth (HP:0000670)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Short stature (HP:0004322)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Ectrodactyly (HP:0100257)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Pallor (HP:0000980)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Abnormal limb bone morphology (HP:0002813)
Associated disease: Hypotrichosis with juvenile macular dystrophy; HJMD; Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
Gene: CDH3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME (OMIM:225280)
Gene: CDH3
Phenotype: Subretinal deposits (HP:0031528)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Strabismus (HP:0000486)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Retinopathy (HP:0000488)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Absent sebaceous glands (HP:0410400)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY (OMIM:601553)
Gene: CDH3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: EEM syndrome; Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (ORPHA:1897)
Gene: CDH3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDH3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDH3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CDH11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Syndactyly (HP:0001159)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Attached earlobe (HP:0009907)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)