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Gene: Cdh5 MGI:105057

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cadherin 5
Synonyms:
7B4/cadherin-5,  CD144,  VE-Cad,  VEC,  VECD,  VEcad,  VE-cadherin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cdh5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdh5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... ORPHA:64739
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hypertension, Polycystic ovaries ORPHA:79084
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cervical Cancer
Cervix cancer OMIM:603956
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Polycystic ova... ORPHA:275555
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Cirrhosis, Neona... OMIM:214900
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Polycystic ovaries ORPHA:280356
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... ORPHA:1414
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage ORPHA:327
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Pleural effusion, Ascites, Abnormality of the ovary ORPHA:314473
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Ovarian Fibrothecoma
Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, Pleural effusion, Ascite... ORPHA:314478
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Abnormality o... OMIM:228300
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Ataxia-Telangiectasia
Mucosal telangiectasiae, Abnormal testis morphology, Telangiectasia of the skin, Polycystic ovaries ORPHA:100
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus OMIM:617805
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Congenital Fibrinogen Deficiency
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Left ventricular hypertrophy, Micrope... ORPHA:335
Cinca Syndrome
Eosinophilia, Lymphedema, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Anemia OMIM:607115
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple ren... ORPHA:2869
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash OMIM:617585
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema OMIM:211890
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Lymphedema ORPHA:33276
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Hypertension OMIM:610475
Chylous Ascites
Ascites, Pancreatitis, Lymphedema ORPHA:1160
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Lipodystrophy, Familial Partial, Type 3
Hypertension, Polycystic ovaries OMIM:604367
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary ORPHA:543
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Renal Hypodysplasia/Aplasia 1
Hypertension, Bicornuate uterus, Vaginal atresia, Oligohydramnios OMIM:191830
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Congestive heart f... ORPHA:528
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... ORPHA:90064
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... ORPHA:1041
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Anemia, Lymphedema ORPHA:2930
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertrophic cardiomyop... ORPHA:2348
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... ORPHA:261529
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia OMIM:193670
Donohue Syndrome
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy OMIM:246200
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Long penis, Cardiomyopathy, Increased pineal volume, Clitor... ORPHA:769
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... ORPHA:90795
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Gjc2-Related Late-Onset Primary Lymphedema
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... ORPHA:568051
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertension, Hypertrop... ORPHA:79083
Schnitzler Syndrome
Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulati... ORPHA:37748
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Lymphedema, Leukemia, Decreased CD4:CD8 ratio OMIM:614038
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema OMIM:616006
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Enlarged ovaries, Abnormal salivary gland morphology, Polycystic ova... ORPHA:2298
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Intestinal bleeding, Precocious puberty with Sertoli cell... OMIM:175200
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum ORPHA:2745
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Neonatal death OMIM:620014
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Splenomegaly, Lymp... OMIM:616843
Infantile Systemic Hyalinosis
Lymphedema, Telangiectasia of the skin, Polycystic ovaries ORPHA:2176
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Goiter OMIM:615108
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Cowden Syndrome 6
Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Lymphatic Malformation 3
Lymphedema OMIM:613480
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Lymphedema OMIM:616342
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Hydrops fetalis, Ascites, Abnormal vagina morphology ORPHA:2123
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal cardiovascular system physiology, Polycystic ovaries, Hypertension, Cardio... ORPHA:79086
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Lymphedema ORPHA:79279
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Cystic Echinococcosis
Hepatomegaly, Abnormality of the testis size, Renal cyst, Ovarian cyst, Hepatic cysts ORPHA:400
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis OMIM:260570
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Short stature, Paroxysmal atrial tachycardia, Congesti... ORPHA:49827
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymp... OMIM:235255
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Lymphatic Malformation 5
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153200
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... OMIM:153100
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter OMIM:158350
Greenberg Dysplasia
Abnormal leukocyte morphology, Lymphedema ORPHA:1426
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Nodular goiter ORPHA:371428
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Perrault Syndrome 2
Streak ovary OMIM:614926
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Lymphatic Malformation 2
Lymphedema OMIM:611944
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Premature Ovarian Failure 5
Streak ovary, Hypoplasia of the ovary OMIM:611548
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary OMIM:609993
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Yellow Nail Syndrome
Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Lymphedema ORPHA:662
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia, Oligohydramnios OMIM:616258
Short Syndrome
Ovarian cyst OMIM:269880
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism, Polyhydramnios, Enlarged kidney OMIM:618188
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... ORPHA:69735
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia, Lymphedema ORPHA:1116
Lissencephaly 2
Lymphedema OMIM:257320
Ovarian Dysgenesis 10
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:619834
Mucopolysaccharidosis Type 7
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites ORPHA:584
Transaldolase Deficiency
Edema, Hydrops fetalis, Telangiectasia, Hepatosplenomegaly, Abnormality of the clitoris ORPHA:101028
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Bicornuate uterus, Polycystic kidney dysplasia, Oligohydramnios OMIM:263210
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Polyhydramnios, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, P... ORPHA:456328
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypoplasia of the ovary, Elevated ci... OMIM:612885
Denys-Drash Syndrome
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... OMIM:194080
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... ORPHA:201
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... ORPHA:280365
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Juvenile Temporal Arteritis
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia ORPHA:26137
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Campomelia, Cumming Type
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Oligohy... ORPHA:1318
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Lymphatic Malformation 4
Pedal edema, Lymphedema OMIM:615907
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck OMIM:615583
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Premature Ovarian Failure 8
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:615723
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Labial pseudohypertrophy, Hypertension, Polycystic ovaries OMIM:151660
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Predominantly lower limb lymphedema ORPHA:261519
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... OMIM:617099
Tularemia
Brain abscess, Tachycardia, Skin rash, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal... ORPHA:3392
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... OMIM:614527
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Peripheral Cone Dystrophy
Pallor OMIM:609021
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Polycystic ovaries ORPHA:264580
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Chronic oral ca... OMIM:616740
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Elevated circulating follicle stimulating hormone level OMIM:620311
Chromomycosis
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema ORPHA:182
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:79240
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276556
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Cone-Rod Dystrophy 11
Pallor OMIM:610381
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis OMIM:164745
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary OMIM:618841
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276575
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Pallor OMIM:613561
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy ORPHA:276580
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
46,Xx Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Gonadal dysgenesis, Ambiguous genitalia, ... ORPHA:243
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Optic Atrophy 1
Pallor OMIM:165500
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Melorheostosis
Lymphedema ORPHA:2485
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Decr... ORPHA:90363
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus... ORPHA:98850
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Lymphedema OMIM:247410
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Prune Belly Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Abnormality of the uterus, Decreased testicular siz... ORPHA:2970
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi... OMIM:235510
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Hennekam Syndrome
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... ORPHA:2136
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
German Syndrome
Lymphedema ORPHA:2077
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cardiomyopathy, Clitoral hype... OMIM:608594
Cantu Syndrome
Pericardial effusion, Lymphedema OMIM:239850
Lymphatic Malformation 10
Lymphedema OMIM:619369
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Pituitary growth hormone c... ORPHA:1359
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema OMIM:618154
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... ORPHA:2035
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor OMIM:500007
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab... ORPHA:3099
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Lymphedema OMIM:152950
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations, Pallor ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Monosomy 18P
Lymphedema ORPHA:1598
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Lymphedema ORPHA:1446
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:94080
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, H... OMIM:612840
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Lymphedema OMIM:137940
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenop... OMIM:150550
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Pruritus, Splenomegaly, Leuko... ORPHA:829
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Hypertrophic cardiomyopathy, ... OMIM:269700
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Hypertension, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Atopic dermatitis, Decre... OMIM:619752
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocyt... OMIM:301078
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature OMIM:618453
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Pruritus, Spl... ORPHA:98849
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Noonan Syndrome
Hepatomegaly, Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, Abnorma... ORPHA:648
Noonan Syndrome 13
Lymphedema OMIM:619087
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Renal Agenesis
Hypertension, Absent vas deferens, Oligohydramnios, Aplasia/hypoplasia of the uterus ORPHA:411709
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Klippel-Trenaunay-Weber Syndrome
Lymphangioma, Lymphedema OMIM:149000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Meckel Syndrome 14
Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgitation, Polycystic kidney d... OMIM:619879
Matthew-Wood Syndrome
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys, Oligohydramnios ORPHA:958
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck ORPHA:1131
Hemoglobin D Disease
Pallor ORPHA:90039
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Breath-Holding Spells
Pallor OMIM:607578
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, C... OMIM:613563
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia ORPHA:1839
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypertension, Hypoplasia of th... ORPHA:110
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosp... ORPHA:1655
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... ORPHA:293173
Fabry Disease
Anemia, Lymphedema OMIM:301500
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Lymphedema OMIM:616737
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level OMIM:110100
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Mckusick-Kaufman Syndrome
Edema, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Pedal edema, Rectovaginal fis... OMIM:236700
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased test... ORPHA:66628
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Familial Exudative Vitreoretinopathy
Macular edema, Lymphedema ORPHA:891
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Epistaxis, Polycystic ovaries, Hypertension, Pulmonary venous hypertension, Enlarge... ORPHA:79259
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
American Trypanosomiasis
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia ORPHA:3386
Clapo Syndrome
Lymphangioma, Lymphedema ORPHA:168984
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Enlarged polycystic ovaries, Splen... ORPHA:744
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Junctional ectopic tachycardia, Hypoplasia of the uterus, Chordee, Arrhyt... OMIM:309801
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test OMIM:615866
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased test... ORPHA:179494
Evans Syndrome
Pallor, Syncope, Epistaxis, Petechiae ORPHA:1959
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Abnormality of the lymphatic system, Nonimmune hydrops fetalis, Lymphedema ORPHA:137667
Lymphangioleiomyomatosis
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... ORPHA:538
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Oligohydramnios, Aplasia of the uterus, Absent external genitalia OMIM:271520
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE le... OMIM:304790
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Pallor ORPHA:163596
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Short stature, Pallor OMIM:615631
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Pagod Syndrome
Multicystic kidney dysplasia, Sudden cardiac death, Agonadism, Abnormality of the uterus, Ambiguo... ORPHA:991
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Pulmonary artery stenosis ORPHA:435938
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema OMIM:606232
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Septate vagina, Valvular pulmonary stenosis, Bicornuate uterus, Rectovaginal fistula, Labial hypo... OMIM:300707
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Beta-Thalassemia
Hypertrophic cardiomyopathy, Pallor, Skin ulcer ORPHA:848
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchidism, Bicornuate uterus ORPHA:2059
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short stature, Pallor, Atrial septal defect, Intrauterine growth retar... OMIM:609053
Lymphedema-Distichiasis Syndrome
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema OMIM:153400
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Bicornuate uterus, Polycystic kidney dysplasia, Unicornuate uter... OMIM:200980
Lymphatic Malformation 13
Neonatal death, Ascites, Nonimmune hydrops fetalis, Lymphedema OMIM:620244
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse, Congestive heart failure, Mitral regurgitation, Aortic regurgitation OMIM:123700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... ORPHA:167
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Maculopapular exanthema, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophag... OMIM:619644
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Precocious atherosclerosis, Mitral valve prolapse, Arrhythmia, Spina... ORPHA:230839
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume, Lymphedema ORPHA:487796
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus, Pulmonic stenosis OMIM:601186
Omenn Syndrome
Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Erythroderma, Abnormal lymph... ORPHA:39041
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Upper eyelid edema ORPHA:293939
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Waardenburg Syndrome
Abnormal vagina morphology, Abnormality of the uterus ORPHA:3440
Rhombencephalosynapsis
Abnormality of the uterus ORPHA:59315
Dystonia 23
Arrhythmia OMIM:614860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Hypoplasia of the ova... ORPHA:2235
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema OMIM:607823
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... ORPHA:85451
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Oligohydramnios ORPHA:1848
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal cyst, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Pancreatic... OMIM:137920
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology ORPHA:37202
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Septate vagina OMIM:176450
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Pallor, Heart murmur, Diffuse alveolar hemorrhage ORPHA:99931
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:276621
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Meacham Syndrome
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Enlarged kidney OMIM:608978
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Left-to-right shunt, Hypospadias, Endometriosis ORPHA:363444
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypertension, Hypogonadism, Vaginal atresia, Left ventricular hypertrop... OMIM:209900
Retinitis Pigmentosa 51
Pallor OMIM:613464
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Mosaic Trisomy 9
Hypoplasia of penis, Polyhydramnios, Cryptorchidism, Hydrops fetalis, Multiple renal cysts, Abnor... ORPHA:99776
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an... ORPHA:261330
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Abnormality of the uter... ORPHA:3138
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Ogden Syndrome
Pulmonary edema, Lymphedema, Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, ... OMIM:300855
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Short stature, Abnormal pulmonary valve mor... ORPHA:500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia of the uteru... OMIM:618419
Dravet Syndrome
Pallor ORPHA:33069
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, A... ORPHA:228410
Cerebrofacioarticular Syndrome
Lymphedema ORPHA:314679
Primary Myelofibrosis
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Shock, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious... ORPHA:90794
Cardiofaciocutaneous Syndrome
Lymphedema ORPHA:1340
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... ORPHA:88
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Alg9-Cdg
Hepatomegaly, Tricuspid regurgitation, Hepatic cysts, Pericardial effusion, Hydrops fetalis, Bico... ORPHA:79328
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Hydrops fetalis, Aplasia of the uterus ORPHA:2879
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... ORPHA:69085
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Pallor, Delayed puberty OMIM:600462
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula ORPHA:50815
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Acne, Pustule... ORPHA:3243
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Digeorge Syndrome
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... OMIM:188400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Chylothorax, Leukemia, Pleural effusion ORPHA:2526
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Psoriasis 14, Pustular
Pustule, Neutrophilia, Leukocytosis, Psoriasiform dermatitis OMIM:614204
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231226
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Portal hypertension, Erythema nodosum, Splenomegaly, Leukocytosi... OMIM:615688
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Low posterior hairline, T... ORPHA:261337
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Loeys-Dietz Syndrome
Cardiac arrest, Uterine rupture ORPHA:60030
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Bannayan-Riley-Ruvalcaba Syndrome
Lymphedema ORPHA:109
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Autosomal Recessive Spastic Paraplegia Type 11
Lymphedema ORPHA:2822
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hypotension, Thrombocytop... ORPHA:91547
Hydrolethalus Syndrome 1
Hypospadias, Polyhydramnios, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology OMIM:236680
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema OMIM:613089
Phakomatosis Pigmentokeratotica
Lymphedema ORPHA:2874
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Microsporidiosis
Myocarditis, Abnormality of the parathyroid gland, Abnormal endometrium morphology, Dehydration, ... ORPHA:2552
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Growth delay, Abnormal aortic valv... ORPHA:1194
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... ORPHA:29072
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hydrocele testis, Hyperten... ORPHA:567546
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Sepsis In Premature Infants
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura ORPHA:90051
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Spinal... ORPHA:2162
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sudden cardiac death, Cardiomegaly, Precociou... ORPHA:904
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargement, Cardiomegaly, L... ORPHA:57777
Spondylodysplastic Ehlers-Danlos Syndrome
Lymphedema ORPHA:536471
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina OMIM:617925
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Pulmonary venous occlusion ORPHA:2260
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... ORPHA:231214
Fabry Disease
Anemia, Lymphedema ORPHA:324
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Polyhydramnios, Cryptorchidism, Renal cyst... OMIM:229850
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... OMIM:181450
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte... OMIM:130050
Cardiac-Urogenital Syndrome
Bifid scrotum, Tachycardia, Unilateral cryptorchidism, Pericardial effusion, Cryptorchidism, Enla... OMIM:618280
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level, Chronic oral candidiasis ORPHA:723
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Hereditary Spherocytosis
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer ORPHA:822
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Paroxysmal supraventricular tachycardia, Perimembranous ventricular septal defect,... OMIM:617877
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... OMIM:269150
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Coarctati... OMIM:105650
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema ORPHA:33001
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... ORPHA:33226
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Congenital Dyserythropoietic Anemia Type Iii
Melena, Short stature, Pallor ORPHA:98870
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud p... ORPHA:3260
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Lymphedema, Biliary cirrhosis, Cholestatic liver disease, Hepatic ... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Lymphedema, Biliary cirrhosis, Cholestatic liver disease, Hepatic ... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Lymphedema, Biliary cirrhosis, Cholestatic liver disease, Hepatic ... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Lymphedema, Biliary cirrhosis, Cholestatic liver disease, Hepatic ... ORPHA:881
Irida Syndrome
Pallor ORPHA:209981
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... ORPHA:508488
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Noonan Syndrome 5
Short stature, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:611553
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Bor Syndrome
Branchial cyst ORPHA:107
Ogden Syndrome
Ventricular septal defect, Postnatal growth retardation, Pulmonary artery stenosis, Cutis laxa, C... ORPHA:276432
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Beta-Thalassemia Intermedia
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer ORPHA:231222
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Right-to-left shunt, Pleural effusion, Bi... OMIM:265380
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Cold Agglutinin Disease
Pallor ORPHA:56425
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia ORPHA:2131
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Bicornuate uterus, Hypog... ORPHA:84
Okamoto Syndrome
Splenomegaly, Aortic valve stenosis, Oligohydramnios, Bifid uterus ORPHA:2729
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature ORPHA:2928
Neu-Laxova Syndrome 1
Cryptorchidism, Generalized edema, Polyhydramnios, Bifid uterus OMIM:256520
Sheehan Syndrome
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Myelofibrosis
Pallor, Purpura OMIM:254450
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... ORPHA:99827
Spondyloocular Syndrome
Lymphedema OMIM:605822
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertension, Arrhythmia, Neonatal death, Umbilical hernia, Hypertrophic cardiomyop... OMIM:614052
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Oculoectodermal Syndrome
Lymphedema OMIM:600268
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Bi... ORPHA:2052
Beta-Ketothiolase Deficiency
Hypertension, Pallor, Hypotension ORPHA:134
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Imerslund-Gräsbeck Syndrome
Tachycardia, Pallor ORPHA:35858
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Skin rash, Abscess, Pustule, Splenomegaly OMIM:612852
Leopard Syndrome 1
Bundle branch block, Hypospadias, Cryptorchidism, Hypertrophic cardiomyopathy, Hypoplasia of the ... OMIM:151100
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Singleton-Merten Syndrome 2
Psoriasiform lesion, Short stature, Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension ORPHA:36238
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec... ORPHA:398124
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... OMIM:270400
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Retinitis Pigmentosa 75
Pallor OMIM:617023
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Hydrop... ORPHA:93271
Schneckenbecken Dysplasia
Polyhydramnios, Lymphedema ORPHA:3144
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Chylothorax, Lymphedema OMIM:163950
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Tay-Sachs Disease
Pallor OMIM:272800
Degcags Syndrome
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Atri... OMIM:619488
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Cerebral ischemia, Aortic ... ORPHA:397
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Predominantly lower limb lymphedema OMIM:604121
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Anemic pallor, Short stature, Abnormal heart morphology OMIM:227646
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Pituitary Apoplexy
Hypertension, Pallor, Hypotension ORPHA:95613
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Lymphedema ORPHA:79280
Prolactinoma
Pallor, Hypotension, Delayed puberty ORPHA:2965
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature, Subvalvular aortic stenosis OMIM:600430
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus OMIM:154400
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature, Arrhythmia ORPHA:254913
Esophageal Atresia
Ventricular septal defect, Coarctation of aorta, Growth delay, Pallor, Tetralogy of Fallot ORPHA:1199
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy OMIM:219000
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Bicornuate uterus, Abnormal salivary gland morphology, Corneal neovas... ORPHA:2363
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Short stature ORPHA:772
Senior-Loken Syndrome 8
Pallor OMIM:616307
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Bifid uterus, Cr... OMIM:107480
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism ORPHA:624
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Pancreatic cysts, Hepatosplenomegaly, ... OMIM:274000
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Monosomy 22Q13.3
Palpebral edema, Lymphedema ORPHA:48652
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... ORPHA:254346
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Diamond-Blackfan Anemia
Ventricular septal defect, Short stature, Abnormal heart morphology, Coarctation of aorta, Growth... ORPHA:124
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Kanzaki Disease
Lymphedema OMIM:609242
Letterer-Siwe Disease
Pallor OMIM:246400
Hennekam-Beemer Syndrome
Mastocytosis, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Growth delay, Pallor, Pulmonary a... ORPHA:667
Incontinentia Pigmenti
Pallor, Erythema, Short stature, Retinal hemorrhage OMIM:308300
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Fumarase Deficiency
Perimembranous ventricular septal defect, Pallor OMIM:606812
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Eryth... ORPHA:727
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Predominantly lower limb lymphedema ORPHA:314404
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Elliptocytosis 1
Pallor OMIM:611804
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Lymphopenia, Tachycardia, Skin rash, Maculopapular exanthema, Pericarditi... ORPHA:99826
Meckel Syndrome, Type 1
External genital hypoplasia, Cryptorchidism, Splenomegaly, Ambiguous genitalia, female, Ambiguous... OMIM:249000
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... ORPHA:79329
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... ORPHA:2968
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial rupture, Cervical insufficiency, Joint swelling, Mitral regurgi... ORPHA:287
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomegaly ORPHA:42
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Aregenerative Anemia
Pallor ORPHA:101096
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature OMIM:227645
Peters Plus Syndrome
Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchidism, Hypoplasia of the uter... ORPHA:709
Yellow Fever
Shock, Neutrophilia, Skin rash, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary... ORPHA:99829
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... OMIM:164210
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Erysipelas OMIM:249100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Atrial septal defect, Patent foramen ovale, Right ventricular hypert... OMIM:620186
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Growth delay, Anemic pallor ORPHA:329971
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Alström Syndrome
Hepatomegaly, Precocious puberty in females, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:64
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ... OMIM:619184
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Abnormal heart morphology, Cardiomyopathy, Arrhythmia, Hepatic periport... ORPHA:26791
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the fallopian tube, Aortic valve stenosis, Apl... ORPHA:96121
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Short stature, Third degree atrioventricular block OMIM:530000
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Multiple Endocrine Neoplasia Type 2
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma ORPHA:653
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Peripheral a... ORPHA:580
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Coarc... ORPHA:261494
Vascular Ehlers-Danlos Syndrome
Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Cystocele, Re... ORPHA:286
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Peripheral a... ORPHA:217085
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hypospadias, Polyhydramnios, Cryptorchidism, Spl... ORPHA:567
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Polyhydramnios, Cryptorchidism, Hypo... OMIM:261540
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Abnormal cardiomyocyte morp... ORPHA:565612
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature ORPHA:3201
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Portal hypertension, Fetal ascites, Crypto... OMIM:619503
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Peripheral a... ORPHA:217093
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pallor, Hypertensive crisis ORPHA:544482
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Polyhydramnios, Cryptorchidism, Long penis, Bicornuate uterus... OMIM:268300
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated... ORPHA:465508
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Mitral regurgitation, Pulmonic stenosis, Uterine prola... ORPHA:284984
Pmm2-Cdg
Elevated hepatic transaminase, Lymphedema, Pericardial effusion, Abnormal liver parenchyma morpho... ORPHA:79318
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature ORPHA:2238
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation, Short stature ORPHA:261211
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia ORPHA:228305
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Agel Amyloidosis
Cutis laxa, Cardiomyopathy, Arrhythmia, Dry skin, Orthostatic hypotension due to autonomic dysfun... ORPHA:85448
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... ORPHA:746
Legionnaires Disease
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Hypovolemic shock, Arrhythmia ORPHA:171876
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Arrhythmia ORPHA:57
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Coffin-Lowry Syndrome
Uterine prolapse, Mitral regurgitation OMIM:303600
Wolf-Hirschhorn Syndrome
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus OMIM:194190
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia ORPHA:60040
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnormal myocardium... ORPHA:228308
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Erythem... ORPHA:221
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Cornelia De Lange Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Increased nuchal ... ORPHA:199
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Cardiomegaly OMIM:608836
Pallister-Hall Syndrome
Thyroid hypoplasia, Hypopituitarism, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidi... ORPHA:672
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Pulmonic stenosis, Ute... ORPHA:438213
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Localized Scleroderma
Raynaud phenomenon, Arrhythmia, Vasculitis, Erythema ORPHA:90289
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, Sk... ORPHA:906
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Branchiooculofacial Syndrome
Branchial anomaly, Low posterior hairline, Short neck OMIM:113620
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Branchial fistula OMIM:613406
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia, Renal tubular epithelial necrosis ORPHA:157
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Dry skin, Hypotension ORPHA:428
Loeys-Dietz Syndrome 3
Atrial fibrillation, Subarachnoid hemorrhage, Cystocele, Mitral regurgitation, Pulmonic stenosis,... OMIM:613795
Schwartz-Jampel Syndrome
Umbilical hernia, Arrhythmia, Short stature, Pulmonary arterial hypertension ORPHA:800
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature ORPHA:3220
Botulism
Arrhythmia ORPHA:1267
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Dilated cardiomyopathy, Erythema, Mitral valve pro... ORPHA:2556
Foodborne Botulism
Arrhythmia ORPHA:228371
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Edema of the dorsum of feet, Supernumerary nipple, Polyhydramnios, Cr... OMIM:601803
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert... ORPHA:258
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypertension, Intrauterine growth retardation... OMIM:133540
Cockayne Syndrome A
Short stature, Severe postnatal growth retardation, Hypertension, Intrauterine growth retardation... OMIM:216400
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Leber Optic Atrophy
Arrhythmia OMIM:535000
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Skin ulcer ORPHA:68
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Erythema, Arrhythmia ORPHA:342
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Redundant skin, Myocarditis, Disproportionate short stature, Atrial septal defect, Ar... OMIM:250220
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Transposition of the great a... OMIM:312870
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Short stature, Mitral valve prolapse, Arrhythmia,... OMIM:218040
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri... ORPHA:3385
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage OMIM:233450
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Plague
Tachycardia, Hematemesis, Endocarditis, Skin ulcer, Hypotension, Arrhythmia, Dry skin ORPHA:707
Proteasome-Associated Autoinflammatory Syndrome 1
Short stature, Cardiomegaly, Congestive heart failure, Erythema, Growth delay, Arrhythmia OMIM:256040
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Arrhythmia, Ascending tubular aorta aneurysm ORPHA:285
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Stickler Syndrome
Arrhythmia, Short stature, Mitral valve prolapse ORPHA:828
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdh5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdh5.

No publications found that use IMPC mice or data for Cdh5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdh5tm90524(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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