TaoMedAI/RareMedData huggingface dataset:
Gene: VPS33A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Short neck (HP:0000470)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Wide nose (HP:0000445)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Telecanthus (HP:0000506)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Telecanthus (HP:0000506)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Heavy proteinuria (HP:0012597)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS33A
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS33A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: VPS33A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Mucopolysaccharidosis-like plus disease; Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders (ORPHA:505248)
Gene: VPS33A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Gene: UPF3B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Seizure (HP:0001250)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Tall stature (HP:0000098)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Dental crowding (HP:0000678)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Long palm (HP:0011302)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Psychosis (HP:0000709)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Narrow chest (HP:0000774)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Narrow face (HP:0000275)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: High palate (HP:0000218)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Slender build (HP:0001533)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: High forehead (HP:0000348)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Protruding ear (HP:0000411)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Gene: UPF3B
Phenotype: Long foot (HP:0001833)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: UPF3B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
Gene: WNK1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Wormian bones (HP:0002645)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Decreased serum bicarbonate concentration (HP:0032066)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hyperchloremia (HP:0011423)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IIC (OMIM:614492)
Gene: WNK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Hypogeusia (HP:0000224)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: WNK1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Paronychia (HP:0001818)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: WNK1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: PCDH15
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Motor delay (HP:0001270)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)