TaoMedAI/RareMedData huggingface dataset:
Gene: GSC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Preauricular pit (HP:0004467)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Short humerus (HP:0005792)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Joint contracture (HP:0034392)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Malar flattening (HP:0000272)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: High palate (HP:0000218)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Scapulohumeral synostosis (HP:0006595)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Micrognathia (HP:0000347)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PWAR1
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Esotropia (HP:0000565)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: PWAR1
Phenotype: Myopia (HP:0000545)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: TERB2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Gene: TERB2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Gene: TERB2
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Gene: TERB2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Gene: TERB2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TERB2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Gene: MESP2
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Rib spur (HP:6000652)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: MESP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Gene: MESP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: MESP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MESP2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MESP2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)