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Gene: Cdh5 MGI:105057

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.

Human diseases associated with Cdh5 (0 diseases)
Human diseases predicted to be associated with Cdh5 (860 diseases)

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	Matching phenotypes	Source
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
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, Ascites, Peripheral edema, Pleural effusion, Ovarian...	ORPHA:64739
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hypertension, Polycystic ovaries	ORPHA:79084
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Cervical Cancer	Cervix cancer	OMIM:603956
Lipodystrophy, Partial, Acquired, Susceptibility To	Polycystic ovaries	OMIM:608709
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst	OMIM:613546
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Lymphedema, Neonatal cholestatic liver d...	OMIM:214900
Follicular Lymphoma	Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Medi...	ORPHA:545
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Polycystic ovaries	ORPHA:280356
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi...	OMIM:277000
Cholestasis-Lymphedema Syndrome	Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract ...	ORPHA:1414
Congenital Factor Vii Deficiency	Epistaxis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage	ORPHA:327
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Ovarian fibroma	ORPHA:314473
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:3085
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Preeclampsia	Elevated systolic blood pressure, Elevated diastolic blood pressure, Polycystic ovaries, Pulmonar...	ORPHA:275555
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Breast hypoplasia, Hypoplasia of the uterus, Increased circulating g...	ORPHA:785
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Abnormal endometrium ...	ORPHA:314478
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Ataxia-Telangiectasia	Mucosal telangiectasiae, Telangiectasia of the skin, Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Polycystic ovaries	ORPHA:1580
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Lymphadenopa...	ORPHA:3226
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus	OMIM:617805
Immunodeficiency 53	Skin rash, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor...	ORPHA:335
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Cinca Syndrome	Lymphedema, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries	ORPHA:79085
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple ren...	ORPHA:2869
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema	OMIM:211890
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism	OMIM:615524
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto...	OMIM:194072
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Lymphedema	ORPHA:33276
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Ovarian cyst	OMIM:610475
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Chylous Ascites	Ascites, Pancreatitis, Lymphedema	ORPHA:1160
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Lipodystrophy, Familial Partial, Type 3	Hypertension, Polycystic ovaries	OMIM:604367
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries	ORPHA:435651
Burkitt Lymphoma	Abnormality of the ovary, Gastrointestinal hemorrhage	ORPHA:543
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
Fryns Microphthalmia Syndrome	Unicornuate uterus	OMIM:600776
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Oligohydramnios, Bicornuate uterus, Hypertension	OMIM:191830
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Hereditary Breast And/Or Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas	ORPHA:145
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed...	ORPHA:90186
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ...	ORPHA:1041
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Lipe-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Abnormal labia majora morphology	ORPHA:435660
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Pallor, Abnormality of venous physio...	ORPHA:90064
Yellow Nail Syndrome	Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema	OMIM:153300
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst	ORPHA:454840
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepatome...	ORPHA:2348
Ring Chromosome Y Syndrome	Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater...	ORPHA:261529
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Splenomegaly, Lymphedema	ORPHA:2930
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Cardiomyopathy, Enlarged ovaries, Increased...	ORPHA:769
Donohue Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Ovarian cyst	OMIM:246200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema	OMIM:223350
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Intracranial h...	ORPHA:90795
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels...	ORPHA:568051
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepatome...	ORPHA:79083
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Whim Syndrome 1	Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia	OMIM:193670
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Insulin-Resistance Syndrome Type B	Enlarged polycystic ovaries, Enlarged ovaries, Abnormal salivary gland morphology, Polycystic ova...	ORPHA:2298
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Lymphedema, Primary, With Myelodysplasia	Lymphedema, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia	OMIM:614038
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Anemia, Pruritus, Increased c...	ORPHA:37748
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico...	OMIM:615300
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Ovarian cyst, Precocious puberty with Sertoli cell tumor, ...	OMIM:175200
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema	OMIM:616006
Opitz Gbbb Syndrome	Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias	ORPHA:2745
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov...	ORPHA:91
Infantile Systemic Hyalinosis	Lymphedema, Telangiectasia of the skin, Polycystic ovaries	ORPHA:2176
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios	OMIM:620014
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Goiter	OMIM:615108
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P...	OMIM:616843
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Cowden Syndrome 6	Varicocele, Hydrocele testis, Ovarian cyst, Goiter	OMIM:615109
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Lissencephaly 7 With Cerebellar Hypoplasia	Lymphedema, Neonatal death	OMIM:616342
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis	ORPHA:2123
Acquired Generalized Lipodystrophy	Cardiomyopathy, Abnormal cardiovascular system physiology, Polycystic ovaries, Hepatomegaly, Hype...	ORPHA:79086
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma	ORPHA:542592
Cystic Echinococcosis	Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Renal cyst, Hepatomegaly	ORPHA:400
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
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
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Lymphoc...	OMIM:614470
Leprechaunism	Clitoral hypertrophy, Long penis, Overgrowth of external genitalia, Hypertrophic cardiomyopathy, ...	ORPHA:508
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Telangiectasia of the skin, Enlarged kidney	ORPHA:276280
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Hyp...	ORPHA:3109
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Immunodeficiency 108 With Autoinflammation	Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Nathalie Syndrome	Short stature, Arrhythmia	ORPHA:2663
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Atria...	ORPHA:49827
Greenberg Dysplasia	Lymphedema, Abnormal leukocyte morphology	ORPHA:1426
Lymphatic Malformation 1	Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic...	OMIM:153100
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Cowden Syndrome 1	Varicocele, Goiter, Ovarian carcinoma, Ovarian cyst, Hydrocele testis	OMIM:158350
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels	OMIM:153200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Polycystic ovaries, Premature thelarche, Nodular goiter, Hypertension	ORPHA:371428
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Lymphedema, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Thyroid lymphang...	OMIM:235255
Donnai-Barrow Syndrome	Bicornuate uterus, Abnormality of the uterus	ORPHA:2143
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Perrault Syndrome 2	Streak ovary	OMIM:614926
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Premature Ovarian Failure 5	Streak ovary, Hypoplasia of the ovary	OMIM:611548
Lymphedema And Cerebral Arteriovenous Anomaly	Lymphedema	OMIM:152900
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary	OMIM:609993
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb...	OMIM:618963
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Yellow Nail Syndrome	Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Lymphedema	ORPHA:662
Transaldolase Deficiency	Hepatosplenomegaly, Telangiectasia, Abnormal clitoris morphology, Hydrops fetalis, Edema	ORPHA:101028
Hyperparathyroidism, Transient Neonatal	Polyhydramnios, Hyperparathyroidism, Enlarged kidney, Ovarian cyst	OMIM:618188
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus, Oligohydramnios	OMIM:616258
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Vasculitis, Aplastic anemia, Hemophagocyt...	OMIM:308240
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic syst...	ORPHA:69735
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Lymphedema	ORPHA:1116
Mucopolysaccharidosis Type 7	Hepatitis, Lymphedema, Ascites, Splenomegaly, Hydrops fetalis	ORPHA:584
Short Syndrome	Ovarian cyst	OMIM:269880
Lissencephaly 2	Lymphedema	OMIM:257320
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Cryptorchidism, Penoscr...	ORPHA:456328
Ovarian Dysgenesis 10	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:619834
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Oligohydramnios, Bicornuate uterus, Polycystic kidney dysplasia	OMIM:263210
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal morphology of female internal genitalia	ORPHA:2141
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:614324
Cowden Syndrome	Abnormal penis morphology, Abnormality of the uterus, Goiter, Endometrial carcinoma, Enlarged pol...	ORPHA:201
Campomelia, Cumming Type	Lymphedema, Oligohydramnios, Hydrops fetalis, Hepatomegaly, Pancreatic cysts, Abnormality of the ...	ORPHA:1318
Lymphatic Malformation 4	Pedal edema, Lymphedema	OMIM:615907
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:615724
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Sple...	ORPHA:280365
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu...	ORPHA:95699
Mccune-Albright Syndrome	Precocious puberty, Increased circulating prolactin concentration, Goiter, Ovarian cyst, Hyperpla...	ORPHA:562
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy...	ORPHA:432
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Verheij Syndrome	Short neck, Ventricular septal defect, Branchial cyst, Truncus arteriosus	OMIM:615583
Premature Ovarian Failure 8	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:615723
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Hepatomegaly, Hypertension, Polycystic ovaries	OMIM:151660
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the...	OMIM:614527
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD8-pos...	ORPHA:169154
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Hepatic failure	ORPHA:261519
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circ...	OMIM:617099
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Cardiomyopathy, Polycystic ovaries	ORPHA:264580
Premature Ovarian Failure 21	Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone level	OMIM:620311
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia	ORPHA:276556
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased circulating antibody level, Chronic...	OMIM:616740
Juvenile Arthritis	Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Polycystic ovaries	ORPHA:79240
Immunodeficiency 27A	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy, Increased circul...	OMIM:209950
Hypogonadotropic Hypogonadism 25 With Anosmia	Micropenis, Hypoplasia of the ovary, Cryptorchidism	OMIM:618841
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Chromomycosis	Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema	ORPHA:182
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:164745
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia	ORPHA:276575
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Growth delay, Pallor	OMIM:613561
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope, Tachycardia	ORPHA:276580
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Increased proportion of CD25+ mast ...	ORPHA:98850
Secondary Intestinal Lymphangiectasia	Anasarca, Decreased circulating IgG1 level, Lymphedema, Lymphopenia, Decreased circulating IgA le...	ORPHA:90363
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema	ORPHA:3137
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Decreased testicular size, Oligohydramni...	ORPHA:2970
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val...	ORPHA:1880
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
46,Xx Gonadal Dysgenesis	Increased circulating gonadotropin level, Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal...	ORPHA:243
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ...	OMIM:613470
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp...	ORPHA:1330
Frasier Syndrome	Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema...	ORPHA:347
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Melorheostosis	Lymphedema	ORPHA:2485
Lymphedema-Hypoparathyroidism Syndrome	Pulmonary lymphangiectasia, Lymphedema	OMIM:247410
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Al-Gazali-Bakalinova Syndrome	Lymphedema	OMIM:607131
Fibrous Dysplasia Of Bone	Precocious puberty in females, Ovarian cyst, Hyperpituitarism, Elevated circulating growth hormon...	ORPHA:249
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Intestinal lymphangiectasia, Pleural effusion, Nonimmune hydrops fetalis, Thyroid lym...	OMIM:235510
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Carney Complex	Precocious puberty, Leydig cell neoplasia, Euthyroid multinodular goiter, Sertoli cell neoplasm, ...	ORPHA:1359
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
German Syndrome	Lymphedema	ORPHA:2077
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Hypereosinophilia, Abnormality of...	ORPHA:2035
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Splenomegaly, Polycystic ovaries, Hepat...	OMIM:608594
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Lymphopenia, Decreased circulating antibody level, Splenomegaly...	ORPHA:2136
Cantu Syndrome	Pericardial effusion, Lymphedema	OMIM:239850
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Polyhydramnios, Lymphedema	OMIM:618154
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Cyclic Vomiting Syndrome	Cardiomyopathy, Growth delay, Pallor	OMIM:500007
Rheumatic Fever	Erythema, Epistaxis, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A...	ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Erythema nodosum	OMIM:611762
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Oligohydramnios, Hydrops fetalis, Lymphedema	OMIM:601927
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema	OMIM:152950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
Monosomy 18P	Lymphedema	ORPHA:1598
Ring Chromosome 22 Syndrome	Pleural effusion, Edema, Lymphedema	ORPHA:1446
Orofaciodigital Syndrome I	Hepatic cysts, Ovarian cyst, Hypertension, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Milroy Disease	Predominantly lower limb lymphedema, Pedal edema, Lymphedema	ORPHA:79452
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Teebi Hypertelorism Syndrome 1	Bicornuate uterus, Hydrocele testis, Shawl scrotum	OMIM:145420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter...	ORPHA:2237
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Splenomegaly, Polycystic o...	OMIM:269700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Atopic dermatitis, Cutaneous ...	OMIM:619752
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Pulmonary lymphangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema	OMIM:137940
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Oligohydramnios, Crypt...	OMIM:201750
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, C...	OMIM:150550
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Hypotension, Abnormality of the Leydig cells, Abnorma...	ORPHA:168558
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Arrhythmia	OMIM:618453
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Combined Oxidative Phosphorylation Deficiency 23	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt...	OMIM:616198
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Pruritus, Chronic myelomonocytic leukemia, Leukocytosis, Splenome...	ORPHA:98849
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Hypotension, Abnormality of the Leydig cells, Abnorma...	ORPHA:289548
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Noonan Syndrome 13	Lymphedema	OMIM:619087
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Renal Agenesis	Hypertension, Oligohydramnios, Absent vas deferens, Aplasia/hypoplasia of the uterus	ORPHA:411709
Optic Atrophy 1	Pallor	OMIM:165500
Matthew-Wood Syndrome	Annular pancreas, Cryptorchidism, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas	ORPHA:2470
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Meckel Syndrome 14	Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral regurgitation, Ap...	OMIM:619879
Klippel-Trenaunay-Weber Syndrome	Lymphangioma, Lymphedema	OMIM:149000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:308230
X-Linked Mandibulofacial Dysostosis	Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology	ORPHA:1131
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Hemoglobin D Disease	Pallor	ORPHA:90039
Acro-Renal-Mandibular Syndrome	Oligohydramnios, Bicornuate uterus, Uterus didelphys	ORPHA:958
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramni...	ORPHA:1655
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Chylothorax, Juvenile myelomonocytic leukemia, Lymphedema, Hepatosplenomegaly, Splenomegaly, Poly...	OMIM:613563
Breath-Holding Spells	Pallor	OMIM:607578
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Beaulieu-Boycott-Innes Syndrome	Endometriosis	OMIM:613680
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hypogonadism, Decreased testicular size, Decreased response to growth hormone st...	ORPHA:3464
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Hereditary Mucoepithelial Dysplasia	Abnormal morphology of female internal genitalia	ORPHA:1839
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Mckusick-Kaufman Syndrome	Edema, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Polycystic k...	OMIM:236700
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A...	ORPHA:45452
Takenouchi-Kosaki Syndrome	Lymphedema, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Fabry Disease	Anemia, Lymphedema	OMIM:301500
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Woodhouse-Sakati Syndrome	Abnormal T-wave, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia...	OMIM:241080
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Orthostatic hypotension due to autonomic dysfunction, Hypoplasia of th...	ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Pulmonary venous hypertension, Polycystic ovaries, Hepatomegaly, Hypertension, Enlarge...	ORPHA:79259
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, ...	OMIM:304790
Familial Exudative Vitreoretinopathy	Macular edema, Lymphedema	ORPHA:891
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Pallor, Arrhythmia, Myocarditis	ORPHA:3386
Evans Syndrome	Epistaxis, Syncope, Pallor, Petechiae	ORPHA:1959
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Noonan Syndrome	Juvenile myelomonocytic leukemia, Lymphedema, Abnormality of the spleen, Abnormality of the lymph...	ORPHA:648
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Leber Hereditary Optic Neuropathy	Arrhythmia, Retinal telangiectasia, Ventricular preexcitation	ORPHA:104
Branchiogenic-Deafness Syndrome	Branchial fistula, Branchial cyst	OMIM:609166
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Orthostatic hypotension due to autonomic dysfunction, Hypoplasia of th...	ORPHA:179494
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio...	OMIM:181350
Clapo Syndrome	Lymphangioma, Lymphedema	ORPHA:168984
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep...	ORPHA:263297
Lymphangioleiomyomatosis	Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sy...	ORPHA:538
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ovotestis, Cho...	OMIM:309801
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Lymphedema	ORPHA:137667
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Oligohydramnios, Aplasia of the vagina	OMIM:271520
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia	ORPHA:140952
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Tenosynovial Giant Cell Tumor	Joint swelling, Lymphedema	ORPHA:66627
Pagod Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g...	ORPHA:991
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Complete or near-comple...	OMIM:301081
Anemia, Congenital Dyserythropoietic, Type Ib	Short stature, Growth delay, Pallor	OMIM:615631
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Congestive heart failure	ORPHA:90037
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pallor, Pericarditis	ORPHA:163596
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Pulmonary artery stenosis, Branchial cyst	ORPHA:435938
Dahlberg-Borer-Newcomer Syndrome	Lymphedema	ORPHA:1563
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ...	OMIM:260920
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Donnai-Barrow Syndrome	Bicornuate uterus	OMIM:222448
Proteus Syndrome	Long penis, Pulmonary embolism, Thymus hyperplasia, Lymphedema, Splenomegaly, Enlarged polycystic...	ORPHA:744
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Premature skin wrinkling, Abnormal heart valv...	ORPHA:363705
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Bardet-Biedl Syndrome	Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypogonadism, Decreased testi...	ORPHA:110
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Muscular Dystrophy, Becker Type	Arrhythmia, Cardiomyopathy, Abnormal EKG	OMIM:300376
Fryns Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Polyhydramnios, Bicornuate uterus, Hypospadias	ORPHA:2059
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Phelan-Mcdermid Syndrome	Palpebral edema, Lymphedema	OMIM:606232
Lymphatic Malformation 13	Ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death	OMIM:620244
Ectodermal Dysplasia And Immunodeficiency 1	Lymphedema, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level...	OMIM:300291
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ...	OMIM:609053
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Valvular pulmonary stenosis, Septate vagina, Labial hypoplasia, Rectovagina...	OMIM:300707
Adult-Onset Still Disease	Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Generalized lymp...	ORPHA:829
Acrorenal-Mandibular Syndrome	Absent nipple, Uterus didelphys, Oligohydramnios, Unicornuate uterus, Bicornuate uterus, Polycyst...	OMIM:200980
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema	OMIM:153400
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia, Spina bifida occulta, Precocious ...	ORPHA:230839
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia...	ORPHA:453499
Brugada Syndrome 1	Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco...	OMIM:601144
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Mitral regurgitation, Uterine prolapse, Congestive heart failure	OMIM:123700
Long Qt Syndrome 2	Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric...	OMIM:613688
Wolff-Parkinson-White Syndrome	Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR...	OMIM:194200
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Lymphedema, Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Papillary ...	ORPHA:93111
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism, Pulmonic stenosis	OMIM:601186
Familial Isolated Dilated Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:154
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis	OMIM:607823
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma, Lymphaden...	ORPHA:39041
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Lymphadenopathy, Thromb...	OMIM:619644
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m...	ORPHA:167
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Upper eyelid edema	ORPHA:293939
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo...	ORPHA:2232
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Cryptorchidism	OMIM:264480
Rhombencephalosynapsis	Abnormality of the uterus	ORPHA:59315
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Dystonia 23	Arrhythmia	OMIM:614860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Breast hypoplasia, Hypogonadotropic hypogonadism, Hypoplasia...	ORPHA:2235
Renal Agenesis, Bilateral	Oligohydramnios, Abnormal morphology of female internal genitalia	ORPHA:1848
Currarino Syndrome	Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Heart murmur, Diffuse alveolar hemorrhage, Pallor	ORPHA:99931
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Left ventricular hypertrophy, ...	OMIM:209900
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Pancreatic atrophy, Renal cyst, Atretic vas deferens, Epididymal cyst, Hyp...	OMIM:137920
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Palpebral edema, Hy...	ORPHA:567546
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Left ventricular hypertrophy, Arrhythmia, Wolff-Parkinson-White syndrom...	OMIM:540000
Anal Fistula	Pruritus, Leukocytosis	ORPHA:228113
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Ventricular septal defect, Truncus arteriosus, Aortic aneurysm, Atrial septal ...	ORPHA:261330
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Cryptorchidism, Arrhythmia, Hypoplastic nipples, Hypop...	ORPHA:3138
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Oligohydramnios, Cryptorchidism...	ORPHA:99776
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Micropenis, Hypospadias, Left-to-right shunt, Endometriosis	ORPHA:363444
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Primary Myelofibrosis	Portal hypertension, Petechiae, Pallor, Ecchymosis, Purpura	ORPHA:824
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Neut...	ORPHA:88
Meacham Syndrome	Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina, Enlarged kidney	OMIM:608978
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Eczematoid dermatitis, Increased circulating IgE level, Leukocytosis, Splenomegaly,...	OMIM:620565
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Ogden Syndrome	Polycythemia, Lymphedema, Oligohydramnios, Microvesicular hepatic steatosis, Pulmonary edema, Iro...	OMIM:300855
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Dravet Syndrome	Pallor	ORPHA:33069
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypotension, Dehydration, Shock,...	ORPHA:90794
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Bund...	ORPHA:500
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro...	ORPHA:228410
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ...	OMIM:610193
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Hydrops fetalis, Cryptorchidism	ORPHA:2879
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele...	OMIM:618419
Branchiogenic Deafness Syndrome	Branchial fistula, Branchial cyst	ORPHA:50815
Cardiofaciocutaneous Syndrome	Lymphedema	ORPHA:1340
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Cerebrofacioarticular Syndrome	Lymphedema	ORPHA:314679
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Pallor, Growth delay	OMIM:600462
Alg9-Cdg	Tricuspid regurgitation, Oligohydramnios, Hepatic cysts, Hepatomegaly, Hypoplastic nipples, Hypop...	ORPHA:79328
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Pallor, Congestive heart failure	ORPHA:90033
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Splenomegaly, Ovarian cyst, Parathyroid agenesis, Hypopla...	OMIM:188400
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv...	ORPHA:261337
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Ag...	OMIM:243150
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del...	ORPHA:231226
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Sweet Syndrome	Dilated cardiomyopathy, Acne inversa, Predominantly dermal neutrophilic infiltrate, Leukocytosis,...	ORPHA:3243
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Leukemia, Edema	ORPHA:2526
Psoriasis 14, Pustular	Pustule, Psoriasiform dermatitis, Leukocytosis, Neutrophilia	OMIM:614204
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi...	OMIM:620067
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Relapsing Fever	Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca...	ORPHA:91547
Bannayan-Riley-Ruvalcaba Syndrome	Lymphedema	ORPHA:109
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Eczematoid dermatitis, Lymphopen...	OMIM:615688
Loeys-Dietz Syndrome	Cardiac arrest, Uterine rupture	ORPHA:60030
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Phakomatosis Pigmentokeratotica	Lymphedema	ORPHA:2874
Autosomal Recessive Spastic Paraplegia Type 11	Lymphedema	ORPHA:2822
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Lymphedema	OMIM:613089
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Polyhydramnios, Adrenal gland dysgenesis, Bifid uterus, Hypospadias	OMIM:236680
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Williams Syndrome	Precocious puberty, Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebr...	ORPHA:904
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Abnormal ...	ORPHA:1194
Cardiac-Urogenital Syndrome	Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia...	OMIM:618280
Microsporidiosis	Abnormality of the parathyroid gland, Abnormal endometrium morphology, Prostatitis, Abnormal fall...	ORPHA:2552
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Sepsis In Premature Infants	Hypotension, Pallor, Petechiae, Bradycardia, Tachycardia, Purpura	ORPHA:90051
Holoprosencephaly	Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv...	ORPHA:2162
Spondylodysplastic Ehlers-Danlos Syndrome	Lymphedema	ORPHA:536471
Hemochromatosis, Type 2A	Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:602390
Beta-Thalassemia Major	Dilated cardiomyopathy, Skin ulcer, Pallor, High-output congestive heart failure, Arrhythmia, Del...	ORPHA:231214
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe...	OMIM:249270
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys	OMIM:617925
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Oligomeganephronia	Secundum atrial septal defect, Branchial cyst, Pulmonary venous occlusion	ORPHA:2260
Pneumocystosis	Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level	ORPHA:723
Fabry Disease	Anemia, Lymphedema	ORPHA:324
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval	ORPHA:90647
Fryns Syndrome	Ectopic pancreatic tissue, Chylothorax, Bifid scrotum, Cryptorchidism, Renal cyst, Shawl scrotum,...	OMIM:229850
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d...	ORPHA:352665
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Patent ductus arteriosus	ORPHA:861
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia...	OMIM:181450
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Trichodermodysplasia-Dental Alterations Syndrome	Adenoma sebaceum, Abnormal morphology of female internal genitalia	ORPHA:3353
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Uterine rupture, Arterial rupture, Cystocele, Hemothorax, Cryptorchi...	OMIM:130050
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy...	OMIM:617877
Hereditary Spherocytosis	Restrictive cardiomyopathy, Growth delay, Skin ulcer, Pallor	ORPHA:822
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Retinal hem...	ORPHA:33226
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor, Melena	ORPHA:98870
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema	ORPHA:33001
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Splenopancreatic fusion, Hypoplastic labia majora, Hypoplastic nipple...	OMIM:269150
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Neutrophilia, Myeloprolif...	ORPHA:3260
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Diamond-Blackfan Anemia 1	Congestive heart failure, Intrauterine growth retardation, Pallor, Ventricular septal defect, Coa...	OMIM:105650
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Bor Syndrome	Branchial cyst	ORPHA:107
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Irida Syndrome	Pallor	ORPHA:209981
8Q24.3 Microdeletion Syndrome	Branchial cyst, Abnormal heart morphology, Atrioventricular canal defect, Complete atrioventricul...	ORPHA:508488
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Hypotension, Dilated cardiomyopathy, Pallor	ORPHA:20
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Ogden Syndrome	Cardiogenic shock, Postnatal growth retardation, Ventricular septal defect, Pulmonary artery sten...	ORPHA:276432
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Arrhythmia, Cardiomyopathy	OMIM:612999
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Cold Agglutinin Disease	Pallor	ORPHA:56425
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Dry skin, Arrhythmia, Atrial septal defect, Short stature, Pulmonic ...	OMIM:611553
Propionic Acidemia	Arrhythmia, Cardiomyopathy	ORPHA:35
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoospermia, Oligohydramnio...	ORPHA:84
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali...	OMIM:263650
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia	ORPHA:2131
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pallor, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest	OMIM:277400
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure	ORPHA:231222
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Right-to-left shunt, Pleural effusion, Nonimmune hydrops fetalis, Pulmonary art...	OMIM:265380
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Okamoto Syndrome	Bifid uterus, Aortic valve stenosis, Oligohydramnios, Splenomegaly	ORPHA:2729
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Short stature, Intrauterine growth retardation, Pallor	OMIM:301310
Neu-Laxova Syndrome 1	Bifid uterus, Generalized edema, Polyhydramnios, Cryptorchidism	OMIM:256520
Spondyloocular Syndrome	Lymphedema	OMIM:605822
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Cardiac arrest, Pallor	OMIM:246450
Sheehan Syndrome	Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia	ORPHA:91355
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Arrhythmia	ORPHA:2928
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Tachycardia, Diffuse alveolar he...	ORPHA:99827
Beta-Ketothiolase Deficiency	Hypertension, Hypotension, Pallor	ORPHA:134
Leopard Syndrome 1	Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Cryptorchi...	OMIM:151100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death, H...	OMIM:614052
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Refractory Anemia With Excess Blasts	Retinal hemorrhage, Anemic pallor, Palpitations	ORPHA:86839
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Von Hippel-Lindau Disease	Cardiomyopathy, Palpitations, Pallor, Arrhythmia, Myocarditis, Abnormal left ventricular function...	ORPHA:892
Imerslund-Gräsbeck Syndrome	Tachycardia, Pallor	ORPHA:35858
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Pallor, Delayed pube...	ORPHA:91347
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Oculoectodermal Syndrome	Lymphedema	OMIM:600268
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Skin rash, Splenomegaly, Abscess, Pustule, Neutrophilia	OMIM:612852
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio...	ORPHA:398124
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure	ORPHA:85446
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Myelofibrosis	Purpura, Pallor	OMIM:254450
Singleton-Merten Syndrome 2	Aortic valve stenosis, Aortic valve calcification, Psoriasiform lesion, Arrhythmia, Short stature	OMIM:616298
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Bifid scrotum, Hypertrophic cardiomyopathy, Septate vagina, Cr...	OMIM:270400
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Uterus didelphys, Cryptorchidism, Renal cyst, Ambiguous genitalia, Hypoplasia of penis, Hydrops f...	ORPHA:93271
Hemochromatosis, Type 4	Arrhythmia, Cardiomyopathy	OMIM:606069
Hermansky-Pudlak Syndrome 6	Epistaxis, Perineal fistula, Endometriosis	OMIM:614075
Subaortic Stenosis-Short Stature Syndrome	Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia	ORPHA:3191
Degcags Syndrome	Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Dysplas...	OMIM:619488
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Tay-Sachs Disease	Pallor	OMIM:272800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Lymphedema	ORPHA:79280
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Schneckenbecken Dysplasia	Polyhydramnios, Lymphedema	ORPHA:3144
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Giant Cell Arteritis	Vasculitis, Epistaxis, Skin ulcer, Aortic dissection, Double outlet right ventricle with subpulmo...	ORPHA:397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia	ORPHA:99944
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia, Growth delay	ORPHA:168593
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Fanconi Anemia, Complementation Group D2	Short stature, Anemic pallor, Patent ductus arteriosus, Abnormal heart morphology	OMIM:227646
Non-Functioning Pituitary Adenoma	Hypotension, Pallor	ORPHA:91349
Pituitary Apoplexy	Hypertension, Hypotension, Pallor	ORPHA:95613
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Predominantly lower limb lymphedema	OMIM:604121
Noonan Syndrome 1	Lymphedema, Chylothorax, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Esophageal Atresia	Tetralogy of Fallot, Pallor, Ventricular septal defect, Coarctation of aorta, Growth delay	ORPHA:1199
Isolated Atp Synthase Deficiency	Short stature, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:254913
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Monosomy 22Q13.3	Palpebral edema, Lymphedema	ORPHA:48652
Lacrimoauriculodentodigital Syndrome	Xerostomia, Corneal neovascularization, Cryptorchidism, Lacrimal gland aplasia, Abnormal salivary...	ORPHA:2363
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus	OMIM:154400
Chromosome 2Q37 Deletion Syndrome	Short stature, Arrhythmia, Subvalvular aortic stenosis	OMIM:600430
Adenohypophysitis	Pallor, Orthostatic hypotension	ORPHA:95512
Prolactinoma	Hypotension, Delayed puberty, Pallor	ORPHA:2965
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou...	ORPHA:2052
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus,...	OMIM:107480
Infantile Refsum Disease	Short stature, Arrhythmia, Cardiomyopathy	ORPHA:772
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Fraser Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias	OMIM:219000
Kanzaki Disease	Lymphedema	OMIM:609242
Panhypophysitis	Pallor, Orthostatic hypotension	ORPHA:95513
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy	OMIM:615084
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism, Skin ulcer	ORPHA:624
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Aplasia of the uterus, Edema of the dorsum of hands, Edema of the dorsum of f...	OMIM:274000
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Ventricular septal d...	ORPHA:254346
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Palpitations, Syncope	ORPHA:464453
Typhoid	Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis	ORPHA:99745
Diamond-Blackfan Anemia	Abnormal heart morphology, Pallor, Ventricular septal defect, Coarctation of aorta, Atrial septal...	ORPHA:124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Hennekam-Beemer Syndrome	Hypotension, Mastocytosis, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Fumarase Deficiency	Perimembranous ventricular septal defect, Pallor	OMIM:606812
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy	ORPHA:352447
Incontinentia Pigmenti	Short stature, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Telangiectasia, Arrhythmia	OMIM:235200
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Letterer-Siwe Disease	Pallor	OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Pallor, Pulmonary artery stenosis, Pulmonary arterial hypert...	ORPHA:667
Juvenile Dermatomyositis	Erythema, Vasculitis, Gastrointestinal hemorrhage, Skin ulcer, Cardiomyopathy, Bundle branch bloc...	ORPHA:93672
Al Amyloidosis	Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Postural hypotension with com...	ORPHA:85443
Microscopic Polyangiitis	Erythema, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Congestive heart failur...	ORPHA:727
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Predominantly lower limb lymphedema	ORPHA:314404
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Peters Plus Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of ...	ORPHA:709
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Meckel Syndrome, Type 1	Abnormality of the uterus, Ambiguous genitalia, female, External genital hypoplasia, Oligohydramn...	OMIM:249000
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Patent ductus arteriosus, Refle...	ORPHA:79329
Elliptocytosis 1	Pallor	OMIM:611804
Heart-Hand Syndrome Type 2	Arrhythmia	ORPHA:1350
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Arrhythmia	ORPHA:42
Classical Ehlers-Danlos Syndrome	Arterial rupture, Blepharochalasis, Mitral regurgitation, Uterine prolapse, Abnormal heart valve ...	ORPHA:287
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Alström Syndrome	Testicular fibrosis, Precocious puberty in females, Dilated cardiomyopathy, Congestive heart fail...	ORPHA:64
Aregenerative Anemia	Pallor	ORPHA:101096
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Anemic pallor, Ventricular septal defect	OMIM:227645
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ...	ORPHA:2968
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Branchial cyst, Patent foramen ovale, Atrial septal defect, Right ventricular hypert...	OMIM:620186
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Right aortic arch, Ventricular s...	OMIM:164210
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor, Abnormal heart morphology	OMIM:600901
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Neutrophilia, Pericarditis	OMIM:249100
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,...	ORPHA:542323
Yellow Fever	Shock, Reduced left ventricular ejection fraction, Leukocytosis, Skin rash, Bradycardia, Supraven...	ORPHA:99829
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Growth delay	ORPHA:329971
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor, Abnormal heart morphology	OMIM:227650
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Intrauterine growth retardation, Patent foramen ovale, Arrhythmia, ...	OMIM:619184
Specc1L-Related Hypertelorism Syndrome	Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec...	ORPHA:1519
Mucopolysaccharidosis Type 2	Cardiomyopathy, Umbilical hernia, Abnormal heart morphology, Abnormal heart valve morphology, Per...	ORPHA:580
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hypospadias, Aplasia/Hyp...	ORPHA:96121
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Peripheral arterial stenosis, ...	ORPHA:217085
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Hec Syndrome	Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy	ORPHA:2119
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia	OMIM:618531
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta, ...	ORPHA:261494
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma	ORPHA:653
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Peripheral arterial stenosis, ...	ORPHA:217093
Scorpion Envenomation	Erythema, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Car...	ORPHA:466677
Kearns-Sayre Syndrome	Short stature, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy	OMIM:530000
Peters-Plus Syndrome	Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Pulmonic stenosis, Polyhydram...	OMIM:261540
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Transient ischemic attack, Cystocele, Cryptorchidism, Uterine prolapse, Hyperten...	ORPHA:286
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Cholelithiasis, Abnormality of the uterus, Poly...	ORPHA:567
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Fetal ascites, Decreased response to growth hormone stimulation test, Hepa...	OMIM:619503
Neuroblastoma	Anemic pallor, Hypertension	ORPHA:635
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertensive crisis, Pallor, Hypertension	ORPHA:544482
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Corona...	ORPHA:565612
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Arrhythmia	ORPHA:3201
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Polyhydramnios, Polycyst...	OMIM:268300
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Mitral regurgitation, Uterine prolapse, Left ventricular hypertrophy, Atria...	ORPHA:284984
Systemic Capillary Leak Syndrome	Myocarditis, Hypotension, Arrhythmia, Pericarditis	ORPHA:188
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor	OMIM:557000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic...	OMIM:276820
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasarca, Lymphedema, ...	ORPHA:79318
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Cardiomegaly, Arrhythmia, Elevated...	ORPHA:465508
Legionnaires Disease	Hypotension, Arrhythmia, Myocarditis, Endocarditis, Pericarditis	ORPHA:549
16P11.2P12.2 Microdeletion Syndrome	Short stature, Tricuspid regurgitation, Intrauterine growth retardation, Arrhythmia	ORPHA:261211
Agel Amyloidosis	Cardiomyopathy, Dry skin, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cutis...	ORPHA:85448
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Arrhythmia, Cardiomyopathy	ORPHA:228305
Familial Isolated Hypoparathyroidism	Short stature, Arrhythmia	ORPHA:2238
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal heart morphology, Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:26791
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Left ven...	ORPHA:746
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy	ORPHA:159
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia, Proportionate short stature	ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia, Growth delay	ORPHA:57
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Wolf-Hirschhorn Syndrome	Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism	OMIM:194190
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Multiple re...	ORPHA:857
Coffin-Lowry Syndrome	Mitral regurgitation, Uterine prolapse	OMIM:303600
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Umbilical hernia	ORPHA:2710
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Increased nuchal translucency, Cryptorch...	ORPHA:199
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Arrhythmia, Cerebral ischemia	ORPHA:60040
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia, Growth delay	OMIM:615471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Mitochondrial Trifunctional Protein Deficiency 1	Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the...	ORPHA:672
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Coffin-Siris Syndrome 1	Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism	OMIM:135900
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Arrhythmia	OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage	OMIM:608836
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap...	ORPHA:438213
Wiskott-Aldrich Syndrome	Vasculitis, Hematochezia, Epistaxis, Skin ulcer, Recurrent intrapulmonary hemorrhage, Petechiae, ...	ORPHA:906
Localized Scleroderma	Erythema, Arrhythmia, Raynaud phenomenon, Vasculitis	ORPHA:90289
Dermatomyositis	Erythema, Vasculitis, V-sign, Skin ulcer, Sinus tachycardia, Dry skin, Arrhythmia, Facial erythem...	ORPHA:221
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventricula...	ORPHA:254892
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Branchial fistula	OMIM:613406
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh...	ORPHA:100078
Branchiooculofacial Syndrome	Low posterior hairline, Short neck, Branchial anomaly	OMIM:113620
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block	ORPHA:228308
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia	ORPHA:31824
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Recurrent intrapulmonary hemorrha...	ORPHA:900
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Arrhythmia, Abnormal EKG	ORPHA:480864
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Hypertrophic cardiomyopathy, Polyhydr...	OMIM:601803
Loeys-Dietz Syndrome 3	Aortic regurgitation, Cystocele, Mitral regurgitation, Uterine prolapse, Subarachnoid hemorrhage,...	OMIM:613795
Autosomal Dominant Hypocalcemia	Hypotension, Dry skin, Arrhythmia, Congestive heart failure	ORPHA:428
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Erythema, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid re...	ORPHA:2556
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper...	ORPHA:94093
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Short stature, Arrhythmia	ORPHA:3220
Schwartz-Jampel Syndrome	Short stature, Arrhythmia, Pulmonary arterial hypertension, Umbilical hernia	ORPHA:800
Botulism	Arrhythmia	ORPHA:1267
Foodborne Botulism	Arrhythmia	ORPHA:228371
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Arrhythmia, My...	ORPHA:93317
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Dry skin, Ar...	OMIM:133540
Cockayne Syndrome A	Dry skin, Intrauterine growth retardation, Severe postnatal growth retardation, Arrhythmia, Short...	OMIM:216400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypertension, Cardiomy...	ORPHA:258
Leber Optic Atrophy	Arrhythmia	OMIM:535000
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Arrhythmia	ORPHA:2878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Carnitine Palmitoyltransferase Ii Deficiency	Arrhythmia, Cardiomyopathy	ORPHA:157
Hypermobile Ehlers-Danlos Syndrome	Epistaxis, Aortic root aneurysm, Umbilical hernia, Striae distensae, Mitral valve prolapse, Arrhy...	ORPHA:285
Ivic Syndrome	Severe short stature, Arrhythmia	ORPHA:2307
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Disproportionate short stature, Redundant skin, Arrhythmia, Atrial septal defect, Myo...	OMIM:250220
Familial Mediterranean Fever	Erythema, Vasculitis, Arrhythmia, Myocardial infarction, Pericarditis	ORPHA:342
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension	ORPHA:139411
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Arrhythmia, Skin ulcer	ORPHA:68
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Right ventricular hype...	OMIM:312870
Costello Syndrome	Hypertrophic cardiomyopathy, Mitral valve prolapse, Redundant neck skin, Ventricular septal defec...	OMIM:218040
Oculodentodigital Dysplasia	Arrhythmia, Atrial septal defect	OMIM:164200
Goodpasture Syndrome	Pulmonary hemorrhage, Pallor	OMIM:233450
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Congestive heart failure, Cardiomegaly, Arrhythmia, Short stature, Growth delay	OMIM:256040
African Trypanosomiasis	Myelopathy, Third degree atrioventricular block, Second degree atrioventricular block, Congestive...	ORPHA:3385
Plague	Hypotension, Skin ulcer, Dry skin, Arrhythmia, Hematemesis, Tachycardia, Endocarditis	ORPHA:707
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Leptospirosis	Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor...	ORPHA:509
Stickler Syndrome	Short stature, Arrhythmia, Mitral valve prolapse	ORPHA:828
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia	ORPHA:163746
Sarcoidosis	Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, 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.

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MGI Allele	Allele Type	Produced
Cdh5^{tm90524(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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