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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cdh5 mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
46,Xx Testicular Difference Of Sex Development
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