TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF699
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal cry (HP:0025429)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal spleen morphology (HP:0025408)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Poor suck (HP:0002033)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Asthma (HP:0002099)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pneumonia (HP:0002090)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Reduced blood folate concentration (HP:0100507)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Polydactyly (HP:0010442)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Congenital hypoplastic anemia (HP:0004810)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Protruding tongue (HP:0010808)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hemihypotrophy of lower limb (HP:0200053)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Short thumb (HP:0009778)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Fever (HP:0001945)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypotelorism (HP:0000601)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Anemia (HP:0001903)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Synophrys (HP:0000664)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Unilateral conductive hearing impairment (HP:0040119)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Short nose (HP:0003196)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Choking episodes (HP:0030842)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pallor (HP:0000980)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Sacral dimple (HP:0000960)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Osteopenia (HP:0000938)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Retrognathia (HP:0000278)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: High palate (HP:0000218)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Genu valgum (HP:0002857)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Rhinitis (HP:0012384)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal renal cortex morphology (HP:0011035)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Dysplastic pulmonary valve (HP:0005164)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Micrognathia (HP:0000347)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Tachycardia (HP:0001649)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Triangular face (HP:0000325)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Breech presentation (HP:0001623)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Premature birth (HP:0001622)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Macrotia (HP:0000400)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Intestinal atresia (HP:0011100)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Prominent nose (HP:0000448)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Long eyelashes (HP:0000527)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Proptosis (HP:0000520)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Ptosis (HP:0000508)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Bilateral renal hypoplasia (HP:0012584)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Bilateral renal dysplasia (HP:0012582)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: ZNF699
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DEGCAGS SYNDROME (OMIM:619488)
Gene: SVBP
Phenotype: Split hand (HP:0001171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Head-banging (HP:0012168)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short thumb (HP:0009778)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Mongolian blue spot (HP:0011369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short 3rd metacarpal (HP:0010041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Dry hair (HP:0011359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short 3rd toe (HP:0005643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: 2-4 toe cutaneous syndactyly (HP:0005768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Short 4th toe (HP:0008093)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: SVBP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Gene: MIA3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Asthma (HP:0002099)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: MIA3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: MIA3
Phenotype: Periodontitis (HP:0000704)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES (OMIM:619269)
Gene: MIA3
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)