TaoMedAI/RareMedData huggingface dataset:
Gene: PAPSS2
Phenotype: Short stature (HP:0004322)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLDN10
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Polyuria (HP:0000103)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Heat intolerance (HP:0002046)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Congenital onset (HP:0003577)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Polydipsia (HP:0001959)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Dry skin (HP:0000958)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Anhidrosis (HP:0000970)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Xerostomia (HP:0000217)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN10
Phenotype: Alacrima (HP:0000522)
Associated disease: HELIX SYNDROME (OMIM:617671)
Gene: CLDN2
Phenotype: Spermatocele (HP:0033808)
Associated disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Gene: CLDN2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Gene: CLDN2
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Gene: CLDN2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Gene: CLDN2
Phenotype: Male infertility (HP:0003251)
Associated disease: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS (OMIM:301060)
Gene: CLDN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Thick hair (HP:0100874)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Cholestasis (HP:0001396)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Parakeratosis (HP:0001036)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Oligodontia (HP:0000677)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Hypodontia (HP:0000668)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Dry skin (HP:0000958)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Jaundice (HP:0000952)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Jaundice (HP:0000952)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Alopecia (HP:0001596)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Intrahepatic biliary atresia (HP:0005248)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome; IHSC; Neonatal ichthyosis-sclerosing cholangitis syndrome (ORPHA:59303)
Gene: CLDN1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Gene: CLDN9
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Gene: CLDN9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Gene: CLDN9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Gene: CLDN9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Gene: CLDN9
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 116 (OMIM:619093)
Gene: PRY
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PRY
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: XKRY
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: XKRY
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: XKRY
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: XKRY
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: BPY2
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: BPY2
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: BPY2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: BPY2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: VCY
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: VCY
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: VCY
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: VCY
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY1
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: CDY1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: PIGQ
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Poor head control (HP:0002421)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: PIGQ
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Gene: PIGQ
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)