TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A11
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SLC25A11
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SPOP
Phenotype: Tapered finger (HP:0001182)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Microtia (HP:0008551)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Hypertonia (HP:0001276)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Motor delay (HP:0001270)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Motor delay (HP:0001270)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Hemiparesis (HP:0001269)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Seizure (HP:0001250)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Dystonia (HP:0001332)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Large forehead (HP:0002003)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Migraine (HP:0002076)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Chorea (HP:0002072)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Prominent glabella (HP:0002057)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Sleep apnea (HP:0010535)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Synophrys (HP:0000664)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Short nose (HP:0003196)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Epicanthus (HP:0000286)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: High palate (HP:0000218)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Thickened helices (HP:0000391)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Low-set ears (HP:0000369)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Micrognathia (HP:0000347)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Triangular face (HP:0000325)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Pointed chin (HP:0000307)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Pointed chin (HP:0000307)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Strabismus (HP:0000486)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Prominent nose (HP:0000448)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Protruding ear (HP:0000411)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 2 (OMIM:618829)
Gene: SPOP
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: SPOP
Phenotype: Telecanthus (HP:0000506)
Associated disease: NABAIS SA-DE VRIES SYNDROME, TYPE 1 (OMIM:618828)
Gene: BFSP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 12, MULTIPLE TYPES (OMIM:611597)
Gene: BFSP2
Phenotype: Progressive cataract (HP:0007834)
Associated disease: CATARACT 12, MULTIPLE TYPES (OMIM:611597)
Gene: BFSP2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 12, MULTIPLE TYPES (OMIM:611597)
Gene: BFSP2
Phenotype: Myopia (HP:0000545)
Associated disease: CATARACT 12, MULTIPLE TYPES (OMIM:611597)
Gene: LTBP4
Phenotype: Morgagni diaphragmatic hernia (HP:0025194)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Posterolateral diaphragmatic hernia (HP:0025193)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Hypotonia (HP:0001252)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Waddling gait (HP:0002515)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Death in childhood (HP:0003819)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Periorbital edema (HP:0100539)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Emphysema (HP:0002097)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Atelectasis (HP:0100750)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Multiple bladder diverticula (HP:0012619)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Osteopenia (HP:0000938)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Retrognathia (HP:0000278)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Malar flattening (HP:0000272)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Death in infancy (HP:0001522)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Ascites (HP:0001541)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Growth delay (HP:0001510)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Hoarse cry (HP:0001615)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Micrognathia (HP:0000347)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Breech presentation (HP:0001623)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Severe dystrophinopathy, Duchenne type; Duchenne muscular dystrophy; DMD (ORPHA:98896)
Gene: LTBP4
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Accessory spleen (HP:0001747)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: LTBP4
Phenotype: Sandal gap (HP:0001852)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Gene: NR0B2
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OBESITY (OMIM:601665)
Gene: NR0B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OBESITY (OMIM:601665)
Gene: NR0B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBESITY (OMIM:601665)
Gene: NR0B2
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: NR0B2
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: NR0B2
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: RAD54L
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Gene: RAD54L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: RAD54L
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: RAD54L
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: GNPAT
Phenotype: Zonular cataract (HP:0010920)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Stippled calcification proximal humeral epiphyses (HP:0008838)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPAT
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Gene: GNPAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)