TaoMedAI/RareMedData huggingface dataset:
Gene: SIN3A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short stature (HP:0004322)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Second trimester onset (HP:0034198)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Conspicuously happy disposition (HP:0100024)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Anxiety (HP:0000739)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short attention span (HP:0000736)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Autism (HP:0000717)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short nose (HP:0003196)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Contracture of the distal interphalangeal joint of the 4th finger (HP:0009275)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Non-epileptic seizure (HP:0033052)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Narrow face (HP:0000275)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Long face (HP:0000276)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Long face (HP:0000276)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Kyphosis (HP:0002808)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: High palate (HP:0000218)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Growth delay (HP:0001510)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Obesity (HP:0001513)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Fatigue (HP:0012378)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Cupped ear (HP:0000378)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Thickened helices (HP:0000391)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Bilateral polymicrogyria (HP:0025646)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Broad forehead (HP:0000337)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: High forehead (HP:0000348)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Short philtrum (HP:0000322)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Triangular face (HP:0000325)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Microretrognathia (HP:0000308)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Pointed chin (HP:0000307)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Macrotia (HP:0000400)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Strabismus (HP:0000486)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Flared nostrils (HP:0000454)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Short foot (HP:0001773)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Microphallus (HP:0030260)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Microphallus (HP:0030260)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Wide nose (HP:0000445)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Protruding ear (HP:0000411)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Phimosis (HP:0001741)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Cataract (HP:0000518)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Overlapping toe (HP:0001845)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Fragile nails (HP:0001808)
Associated disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Gene: SIN3A
Phenotype: Fragile nails (HP:0001808)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Shallow orbits (HP:0000586)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Coloboma (HP:0000589)
Associated disease: Monosomy 15q24; 15q24 microdeletion syndrome; Del(15)(q24) (ORPHA:94065)
Gene: SIN3A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: SIN3A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: WITTEVEEN-KOLK SYNDROME (OMIM:613406)
Gene: PNKD
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Myokymia (HP:0002411)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Dysarthria (HP:0001260)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Dystonia (HP:0001332)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Staring gaze (HP:0025401)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Dysphagia (HP:0002015)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Dyspnea (HP:0002094)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Rigidity (HP:0002063)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Chorea (HP:0002072)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Infantile onset (HP:0003593)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Paroxysmal choreoathetosis (HP:0007098)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Childhood onset (HP:0011463)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Facial grimacing (HP:0000273)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Trismus (HP:0000211)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: PNKD
Phenotype: Torticollis (HP:0000473)
Associated disease: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 (OMIM:118800)
Gene: PNKD
Phenotype: Torticollis (HP:0000473)
Associated disease: Paroxysmal non-kinesigenic dyskinesia; Paroxystic non-kinesigenic choreoathetosis (ORPHA:98810)
Gene: KANK2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Woolly hair (HP:0002224)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Sparse body hair (HP:0002231)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Amniotic constriction ring (HP:0009775)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Hematuria (HP:0000790)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: KANK2
Phenotype: Leukonychia (HP:0001820)
Associated disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Gene: KANK2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Gene: KANK2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: SH2B1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Distal del(16)(p11.2); Distal monosomy 16p11.2; Distal 16p11.2 microdeletion syndrome (ORPHA:261222)
Gene: SH2B1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)
Gene: SH2B1
Phenotype: Motor delay (HP:0001270)
Associated disease: Proximal del(16)(p11.2); Proximal 16p11.2 microdeletion syndrome; Proximal monosomy 16p11.2 (ORPHA:261197)