TaoMedAI/RareMedData huggingface dataset:
Gene: PPIB
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PPM1B
Phenotype: Seizure (HP:0001250)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Cystinuria (HP:0003131)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Growth delay (HP:0001510)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPM1B
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Monosomy 2p21; Del(2)(p21) (ORPHA:163693)
Gene: PPOX
Phenotype: Seizure (HP:0001250)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Seizure (HP:0001250)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Ileus (HP:0002595)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Coma (HP:0001259)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Increased erythrocyte protoporphyrin concentration (HP:0012187)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Nausea (HP:0002018)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Constipation (HP:0002019)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Constipation (HP:0002019)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abdominal pain (HP:0002027)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Vomiting (HP:0002013)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Paralysis (HP:0003470)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Back pain (HP:0003418)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Chest pain (HP:0100749)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Paranoia (HP:0011999)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Milia (HP:0001056)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Milia (HP:0001056)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Fragile skin (HP:0001030)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Thickened skin (HP:0001072)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Skin erosion (HP:0200041)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Skin erosion (HP:0200041)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Scarring (HP:0100699)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Scarring (HP:0100699)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Anemia (HP:0001903)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Short metacarpal (HP:0010049)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Localized skin lesion (HP:0011355)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Hallucinations (HP:0000738)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Anxiety (HP:0000739)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Psychosis (HP:0000709)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Childhood onset (HP:0011463)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Young adult onset (HP:0011462)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Increased fecal protoporphyrin concentration (HP:0034283)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Increased fecal protoporphyrin concentration (HP:0034283)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Hypertension (HP:0000822)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Short finger (HP:0009381)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: High myopia (HP:0011003)
Associated disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Gene: PPOX
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPOX
Phenotype: Tachycardia (HP:0001649)
Associated disease: VARIEGATE PORPHYRIA (OMIM:176200)
Gene: PPOX
Phenotype: Tachycardia (HP:0001649)
Associated disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Gene: PPP1CB
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: High anterior hairline (HP:0009890)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Hypotonia (HP:0001252)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Scoliosis (HP:0002650)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Freckling (HP:0001480)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1CB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1CB
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome-like disorder with loose anagen hair; NS/LAH; Mazzanti syndrome (ORPHA:2701)
Gene: PPP1CB
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Congenital onset (HP:0003577)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PPP1CB
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)
Gene: PPP1CB
Phenotype: Curly hair (HP:0002212)
Associated disease: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 (OMIM:617506)