TaoMedAI/RareMedData huggingface dataset:
Gene: PIGF
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Poor head control (HP:0002421)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Impaired toileting ability (HP:0031061)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Absent speech (HP:0001344)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Open mouth (HP:0000194)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Head-banging (HP:0012168)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Congenital onset (HP:0003577)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Absent fifth toenail (HP:0200105)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Microdontia (HP:0000691)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Bilateral triphalangeal thumbs (HP:0005707)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Short nose (HP:0003196)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Precocious puberty (HP:0000826)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Coarse facial features (HP:0000280)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Microcephaly (HP:0000252)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Micrognathia (HP:0000347)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGF
Phenotype: Hypoplastic thumbnail (HP:0012553)
Associated disease: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME (OMIM:619356)
Gene: PIGH
Phenotype: Poor speech (HP:0002465)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Seizure (HP:0001250)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Specific learning disability (HP:0001328)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Overfriendliness (HP:0100025)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Dry skin (HP:0000958)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: High palate (HP:0000218)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Nevus spilus (HP:0025510)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Growth delay (HP:0001510)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Abnormal ear morphology (HP:0031703)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIGH
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 (OMIM:618010)
Gene: PIK3C2A
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Stroke (HP:0001297)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Short femoral neck (HP:0100864)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Macroglossia (HP:0000158)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Renal agenesis (HP:0000104)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Broad columella (HP:0010761)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Broad columella (HP:0010761)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Mutism (HP:0002300)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Oligodontia (HP:0000677)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Oligodontia (HP:0000677)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Microdontia (HP:0000691)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Short stature (HP:0004322)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Short stature (HP:0004322)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Retrognathia (HP:0000278)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Abnormality of mucopolysaccharide metabolism (HP:0011020)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Glaucoma (HP:0000501)
Associated disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Gene: PIK3C2A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3C2A
Phenotype: Abnormality of the frontal hairline (HP:0000599)
Associated disease: Oculo-skeleto-dental syndrome; Oculoskeletodental syndrome (ORPHA:557003)
Gene: PIK3CA
Phenotype: Broad palm (HP:0001169)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: PIK3CA
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Macrocephaly-capillary malformation syndrome; MCMTC; Megalencephaly-capillary malformation syndrome; MCAP; Megalencephaly-cutis marmorata telangiectatica congenita syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; Macrocephaly-cutis marmorata telangiectatica congenita syndrome; MCM (ORPHA:60040)
Gene: PIK3CA
Phenotype: Syndactyly (HP:0001159)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Capillary malformation (HP:0025104)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (ORPHA:314662)
Gene: PIK3CA
Phenotype: Capillary malformation (HP:0025104)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Meningocele (HP:0002435)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Microtia (HP:0008551)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Spina bifida (HP:0002414)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Sporadic (HP:0003745)
Associated disease: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (OMIM:612918)
Gene: PIK3CA
Phenotype: Sporadic (HP:0003745)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Nevus (HP:0003764)
Associated disease: Hemihyperplasia-multiple lipomatosis syndrome; HHML (ORPHA:276280)
Gene: PIK3CA
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 4 (OMIM:619538)
Gene: PIK3CA
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: PIK3CA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME (OMIM:602501)
Gene: PIK3CA
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome; Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome; CLOVES syndrome (ORPHA:140944)
Gene: PIK3CA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: PIK3CA
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: PIK3CA
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COWDEN SYNDROME 5 (OMIM:615108)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: PIK3CA
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)