TaoMedAI/RareMedData huggingface dataset:
Gene: POLR1C
Phenotype: Cataract (HP:0000518)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1C
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1C
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1C
Phenotype: Visual impairment (HP:0000505)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1C
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Short face (HP:0011219)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1C
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR1C
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR1C
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
Gene: MACROH2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MACROH2A1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: MINPP1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Seizure (HP:0001250)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Micropenis (HP:0000054)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: MINPP1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Bone pain (HP:0002653)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: MINPP1
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Nodular goiter (HP:0005994)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Apnea (HP:0002104)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Fasciculations (HP:0002380)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Olivopontocerebellar hypoplasia (HP:0006955)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Abnormal scrotal rugation (HP:0012856)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Goiter (HP:0000853)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: MINPP1
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: High palate (HP:0000218)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: MINPP1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Macrotia (HP:0000400)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Absent penis (HP:0030261)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Microphallus (HP:0030260)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Prominent nose (HP:0000448)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: MINPP1
Phenotype: Abnormal neck blood vessel morphology (HP:3000037)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: MINPP1
Phenotype: Cataract (HP:0000518)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Ptosis (HP:0000508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Gene: MINPP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: MINPP1
Phenotype: Pain (HP:0012531)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: H6PD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Middle age onset (HP:0003596)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Adult onset (HP:0003581)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Acne (HP:0001061)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Hirsutism (HP:0001007)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Infertility (HP:0000789)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Precocious puberty (HP:0000826)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Alopecia (HP:0001596)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Obesity (HP:0001513)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: H6PD
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 1 (OMIM:604931)
Gene: GABBR2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Poor head control (HP:0002421)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Panic attack (HP:0025269)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Seizure (HP:0001250)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS (OMIM:617903)
Gene: GABBR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: GABBR2
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59 (OMIM:617904)
Gene: GABBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: GABBR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)