TaoMedAI/RareMedData huggingface dataset:
Gene: SEMA3C
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SEMA3C
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: FBLN5
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Increased number of skin folds (HP:0007522)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Gene: FBLN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Gene: FBLN5
Phenotype: Wormian bones (HP:0002645)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Emphysema (HP:0002097)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Late onset (HP:0003584)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Adult onset (HP:0003581)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Hernia (HP:0100790)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Hernia (HP:0100790)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Poor wound healing (HP:0001058)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Abnormal cutaneous elastic fiber morphology (HP:0025082)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Gene: FBLN5
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Joint subluxation (HP:0032153)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Vascular tortuosity (HP:0004948)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Multiple bladder diverticula (HP:0012619)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Macular degeneration (HP:0000608)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Premature sagging cheeks (HP:0034273)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Drusen (HP:0011510)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Gene: FBLN5
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Microcephaly (HP:0000252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Overgrowth (HP:0001548)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)