TaoMedAI/RareMedData huggingface dataset:
Gene: SMARCAD1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Thin skin (HP:0000963)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Baird syndrome; Absence of dermatoglyphics-congenital milia syndrome; Basan-Baird syndrome; Absence of fingerprints-congenital milia syndrome (ORPHA:1658)
Gene: SMARCAD1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Flexion contracture of digit (HP:0030044)
Associated disease: BASAN SYNDROME (OMIM:129200)
Gene: SMARCAD1
Phenotype: Small nail (HP:0001792)
Associated disease: Palmoplantar hyperkeratosis-sclerodactyly syndrome; Scleroatrophic syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Sclerotylosis; Huriez syndrome (ORPHA:384)
Gene: SMARCAD1
Phenotype: Small nail (HP:0001792)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: SMARCAD1
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: HURIEZ SYNDROME (OMIM:181600)
Gene: MCCC1
Phenotype: Elevated urinary 3-methylcrotonylglycine level (HP:0033596)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Lethargy (HP:0001254)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Seizure (HP:0001250)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Spasticity (HP:0001257)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Coma (HP:0001259)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Vomiting (HP:0002013)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: 3-hydroxyisovaleric aciduria (HP:0033111)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Apnea (HP:0002104)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Acute hyperammonemia (HP:0008281)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Adult onset (HP:0003581)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Episodic metabolic acidosis (HP:0004911)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Organic aciduria (HP:0001992)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Abnormal circulating leucine concentration (HP:0004357)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts (HP:4000206)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MCC deficiency; MCCD; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria (ORPHA:6)
Gene: MCCC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Acute hepatic steatosis (HP:0006573)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: MCCC1
Phenotype: Ketonuria (HP:0002919)
Associated disease: 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY (OMIM:210200)
Gene: PMEPA1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Nodular pattern on pulmonary HRCT (HP:0025392)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Carotid cavernous fistula (HP:0031157)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Aortic dissection (HP:0002647)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Varicose veins (HP:0002619)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Pulmonary bulla (HP:0032446)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Pulmonary bleb (HP:0032447)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: PMEPA1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: PMEPA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: PMEPA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: PMEPA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: PMEPA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)