TaoMedAI/RareMedData huggingface dataset:
Gene: RAB27A
Phenotype: Petechiae (HP:0000967)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Reduced delayed hypersensitivity (HP:0002972)
Associated disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Gene: RAB27A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAB27A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Griscelli-Pruniéras syndrome type 2; Griscelli syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Gene: RAC1
Phenotype: Poor speech (HP:0002465)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Echogenic intracardiac focus (HP:0010942)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Motor delay (HP:0001270)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Absent speech (HP:0001344)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Open mouth (HP:0000194)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Abnormal size of the palpebral fissures (HP:0200007)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Acromesomelia (HP:0003086)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Fetal onset (HP:0011461)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Gene: RAC1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Gene: RAC1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAC2
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA (OMIM:618987)
Gene: RAC2
Phenotype: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA (OMIM:618987)
Gene: RAC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA (OMIM:618987)
Gene: RAC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS (OMIM:608203)
Gene: RAC2
Phenotype: Delayed umbilical cord separation (HP:0032434)
Associated disease: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS (OMIM:608203)
Gene: RAC2
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS (OMIM:608203)
Gene: RAC2
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency; Infantile LAD-like disease due to RAC2 deficiency (ORPHA:183707)
Gene: RAC2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS (OMIM:608203)
Gene: RAC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA (OMIM:618986)
Gene: RAC2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA (OMIM:618987)