TaoMedAI/RareMedData huggingface dataset:
Gene: WNT4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Short philtrum (HP:0000322)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome; SERKAL syndrome (ORPHA:139466)
Gene: WNT4
Phenotype: Hypoplasia of the bladder (HP:0005343)
Associated disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Gene: WNT4
Phenotype: Short neck (HP:0000470)
Associated disease: Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
Gene: WNT4
Phenotype: Short neck (HP:0000470)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Protruding ear (HP:0000411)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: WNT4
Phenotype: Early young adult onset (HP:0025708)
Associated disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Gene: WNT4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WNT4 deficiency; Müllerian duct failure and hyperandrogenism; Müllerian aplasia and hyperandrogenism (ORPHA:247768)
Gene: TERF2IP
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: TERF2IP
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: NLGN3
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Abnormal nonverbal communicative behavior (HP:0000758)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Inflexible adherence to routines (HP:0000732)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Lack of spontaneous play (HP:0000721)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: NLGN3
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Gene: SASH3
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased naive CD4-positive T cell proportion (HP:0410378)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased naive CD8 T cell proportion (HP:0410377)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Increased CD8+ TEMRA T cell proportion (HP:0500265)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Adult onset (HP:0003581)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Verrucae (HP:0200043)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Severe influenza infection (HP:0034249)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: SASH3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: IMMUNODEFICIENCY 102 (OMIM:301082)
Gene: ANLN
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Late onset (HP:0003584)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Young adult onset (HP:0011462)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 (OMIM:616032)
Gene: ANLN
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ANLN
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: RIN2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Palpebral edema (HP:0100540)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Hirsutism (HP:0001007)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Short stature (HP:0004322)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Upper eyelid edema (HP:0012724)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Irregular dentition (HP:0040079)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Irregular dentition (HP:0040079)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Soft skin (HP:0000977)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Sparse hair (HP:0008070)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Alopecia (HP:0001596)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Redundant skin (HP:0001582)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: High palate (HP:0000218)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: High palate (HP:0000218)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MACS SYNDROME (OMIM:613075)
Gene: RIN2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Macrocephaly-alopecia-cutis laxa-scoliosis syndrome; RIN2 deficiency; Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome; MACS syndrome; RIN2 syndrome (ORPHA:217335)
Gene: RIN2
Phenotype: Fatigue (HP:0012378)
Associated disease: MACS SYNDROME (OMIM:613075)