TaoMedAI/RareMedData huggingface dataset:
Gene: FLVCR2
Phenotype: Joint contracture (HP:0034392)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Micrognathia (HP:0000347)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Premature birth (HP:0001622)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: FLVCR2
Phenotype: Talipes (HP:0001883)
Associated disease: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (OMIM:225790)
Gene: OSGEP
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Spasticity (HP:0001257)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Lissencephaly (HP:0001339)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Pachygyria (HP:0001302)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Narrow mouth (HP:0000160)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Congenital onset (HP:0003577)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Nystagmus (HP:0000639)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hypertension (HP:0000822)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Edema (HP:0000969)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Epicanthus (HP:0000286)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: High palate (HP:0000218)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Camptodactyly (HP:0012385)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Low-set ears (HP:0000369)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Sloping forehead (HP:0000340)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Micrognathia (HP:0000347)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: OSGEP
Phenotype: Strabismus (HP:0000486)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Visual impairment (HP:0000505)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: OSGEP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Gene: PIGV
Phenotype: Tapered finger (HP:0001182)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Ataxia (HP:0001251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Abnormal parietal bone morphology (HP:0002696)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Myoclonus (HP:0001336)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Constipation (HP:0002019)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Abnormal rectum morphology (HP:0002034)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Midface retrusion (HP:0011800)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGV
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIGV
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Athetosis (HP:0002305)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
Gene: PIGV
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIGV
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)