TaoMedAI/RareMedData huggingface dataset:
Gene: KMT2A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Anxiety (HP:0000739)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Short attention span (HP:0000736)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Autism (HP:0000717)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Childhood onset (HP:0011463)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Short nose (HP:0003196)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Congenital, generalized hypertrichosis (HP:0004540)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: High palate (HP:0000218)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: High palate (HP:0000218)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Flat face (HP:0012368)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Flat face (HP:0012368)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Low-set ears (HP:0000369)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Low-set ears (HP:0000369)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Long philtrum (HP:0000343)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: High forehead (HP:0000348)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Micrognathia (HP:0000347)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Round face (HP:0000311)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Broad lateral eyebrow (HP:0007933)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Brow ptosis (HP:0031623)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Strabismus (HP:0000486)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Webbed neck (HP:0000465)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Pes planus (HP:0001763)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Wide nose (HP:0000445)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Bulbous nose (HP:0000414)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Aplasia/Hypoplasia of the ribs (HP:0006712)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Prominent digit pad (HP:0011298)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Long hallux (HP:0001847)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KMT2A
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Telecanthus (HP:0000506)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Ptosis (HP:0000508)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Short toe (HP:0001831)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Gene: KMT2A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Gene: KMT2A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KMT2A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NR3C2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Gene: NR3C2
Phenotype: Hypotension (HP:0002615)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Gene: NR3C2
Phenotype: Diarrhea (HP:0002014)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Vomiting (HP:0002013)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Dehydration (HP:0001944)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Gene: NR3C2
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Gene: NR3C2
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY (OMIM:605115)
Gene: NR3C2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: NR3C2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT (OMIM:177735)
Gene: TRPM1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Dry skin (HP:0000958)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Strabismus (HP:0000486)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: TRPM1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)