TaoMedAI/RareMedData huggingface dataset:
Gene: ADSL
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Nystagmus (HP:0000639)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Self-mutilation (HP:0000742)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Autism (HP:0000717)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Short nose (HP:0003196)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Short nose (HP:0003196)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Happy demeanor (HP:0040082)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Microcephaly (HP:0000252)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Growth delay (HP:0001510)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Low-set ears (HP:0000369)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Low-set ears (HP:0000369)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Long philtrum (HP:0000343)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Long philtrum (HP:0000343)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Strabismus (HP:0000486)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Gene: ADSL
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: ADSL
Phenotype: Flat occiput (HP:0005469)
Associated disease: Adenylosuccinate lyase deficiency; Adenylosuccinase deficiency; ADSL deficiency (ORPHA:46)
Gene: AP1B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Erythroderma (HP:0001019)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Photophobia (HP:0000613)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Short stature (HP:0004322)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Sparse hair (HP:0008070)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1B1
Phenotype: Alopecia (HP:0001596)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Fragile nails (HP:0001808)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Keratoconus (HP:0000563)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1B1
Phenotype: Myopia (HP:0000545)
Associated disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Gene: AP1G1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Seizure (HP:0001250)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Seizure (HP:0001250)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Hypotonia (HP:0001252)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Hypotonia (HP:0001252)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Spasticity (HP:0001257)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Spasticity (HP:0001257)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Amblyopia (HP:0000646)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Anxiety (HP:0000739)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Depression (HP:0000716)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Anisometropia (HP:0012803)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Hooded eyelid (HP:0030820)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Short finger (HP:0009381)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Epicanthus (HP:0000286)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Turricephaly (HP:0000262)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: High palate (HP:0000218)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Low-set ears (HP:0000369)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Long philtrum (HP:0000343)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE (OMIM:619548)
Gene: AP1G1
Phenotype: Strabismus (HP:0000486)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Pes planus (HP:0001763)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AP1G1
Phenotype: Esotropia (HP:0000565)
Associated disease: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT (OMIM:619467)
Gene: AEBP1
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Bursitis (HP:0025232)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Bursitis (HP:0025232)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: AEBP1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Decreased dermal collagen (HP:0034943)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Tall stature (HP:0000098)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: AEBP1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 (OMIM:618000)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Classical-like Ehlers-Danlos syndrome type 2; Classical-like EDS type 2; clEDS type 2; AEBP1-related EDS; AEBP1-related Ehlers-Danlos syndrome (ORPHA:536532)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: AEBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)