Not currently registered for phenotyping at IMPC

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

Gene Summary

cadherin 5
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

Not Significant
Not tested


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
Matching phenotypes Source
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology 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
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Pedal edema ORPHA:75325
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Peripheral edema, Pleural effusion, Capillary leak, Ovaria... ORPHA:64739
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatomegaly, Polycystic ovaries ORPHA:79084
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries OMIM:608709
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Lymphedema, Elevated hepatic transaminase, Cirrhosis, Neona... OMIM:214900
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Polycystic ova... ORPHA:275555
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Polycystic ovaries ORPHA:280356
Follicular Lymphoma
Splenomegaly, Pleural effusion, Lymphedema, Lymphadenopathy, Abnormality of the peritoneum, Media... ORPHA:545
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612964
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Ovarian cyst, Joint hemorrhage, Intracranial hemorrhage, Epistaxis ORPHA:327
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Lymphedema, Biliary tract abnormality,... ORPHA:1414
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:3085
Ovarian Fibroma
Abnormality of the ovary, Pleural effusion, Gonadal calcification, Ascites, Ovarian fibroma ORPHA:314473
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Premature Ovarian Failure 2B
Premature ovarian insufficiency OMIM:300604
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Pituitary hypothyroidism, Panhypopituitarism, Anterior hypopituitaris... ORPHA:91348
Immunodeficiency 50
Eczema, Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Pleural effusion, Gonadal calcification... ORPHA:314478
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypoplasia of the uterus, ... ORPHA:785
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, ... OMIM:614837
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Telangiectasia of the skin, Polycystic ovaries, Mucosal telangiectasiae, Abnormal testis morphology ORPHA:100
Tetrasomy X
Premature ovarian insufficiency ORPHA:9
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Uterus didelphys, Hydrocolpos, Abnormality of the uterine cervix ORPHA:3411
Distal Monosomy 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus OMIM:617805
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Leukoencephalopathy, Progressive, With Ovarian Failure
Premature ovarian insufficiency OMIM:615889
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphedema, Lymphadenopathy OMIM:607115
Bangstad Syndrome
Abnormal testis morphology, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:1227
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Micropenis, Internal hemorrhage, Right ventricular hypertrophy, Tachyca... ORPHA:335
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinom... ORPHA:2869
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:79085
Campomelia, Cumming Type
Lymphedema, Polysplenia, Polycystic liver disease, Pancreatic cysts OMIM:211890
Kaposi Sarcoma
Lymphedema, Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypogonadism, Decreased testicular size ORPHA:261483
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Chylous Ascites
Lymphedema, Pancreatitis, Ascites ORPHA:1160
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Cryptorchidism, Elevated circulating luteinizing ho... ORPHA:90796
Primary Lipodystrophy
Polycystic ovaries, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hypertension, Angina ... ORPHA:90970
Lipodystrophy, Familial Partial, Type 3
Hypertension, Polycystic ovaries OMIM:604367
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Precocious puberty in females, Micrope... ORPHA:90793
Meige Disease
Peripheral edema, Absence of lymph node germinal center, Pleural effusion, Predominantly lower li... ORPHA:90186
Congenital Generalized Lipodystrophy
Precocious puberty in females, Polycystic ovaries, Congestive heart failure, Hypertrophic cardiom... ORPHA:528
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Oligohydramnios, Hypertension, Vaginal atresia OMIM:191830
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries ORPHA:435651
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage ORPHA:543
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Ovarian neoplasm, Prostate cancer ORPHA:145
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema OMIM:153300
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Ovarian cyst, Intestinal bleeding, ... OMIM:175200
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Anemia, Lymphedema, Edema, Pericardial effusion, Pulmona... OMIM:617300
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Increased circulating antibody level, Neutropenia, Anemia, Thrombocytop... OMIM:615285
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Agammaglobulinemia OMIM:615214
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatomegaly, Polycystic ovaries ORPHA:435660
Caudal Duplication
Cryptorchidism, Uterus didelphys, Myelomeningocele, Abnormal penis morphology ORPHA:1756
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatome... ORPHA:2348
Donohue Syndrome
Clitoral hypertrophy, Long penis, Ovarian cyst, Precocious puberty OMIM:246200
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Cronkhite-Canada Syndrome
Anemia, Lymphedema, Splenomegaly, Hepatomegaly ORPHA:2930
Rabson-Mendenhall Syndrome
Increased pineal volume, Long penis, Enlarged ovaries, Precocious puberty, Cardiomyopathy, Clitor... ORPHA:769
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Abnormal lymphatic vessel m... ORPHA:568051
Schnitzler Syndrome
Pruritus, Leukocytosis, Increased circulating IgM level, Splenomegaly, Anemia, Vasculitis, Lympha... ORPHA:37748
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Pulmonary lymphangiectasia OMIM:616006
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature pubarche, Polycystic ovaries, Testicular adrenal rest tumor, Ambiguous genitalia, femal... ORPHA:90795
Hydrops Fetalis
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Lymphedema, Ascites, Abnormality of ... ORPHA:1041
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Insulin-Resistance Syndrome Type B
Enlarged polycystic ovaries, Abnormal salivary gland morphology, Enlarged ovaries, Polycystic ova... ORPHA:2298
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:619146
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Lymphedema, Leukemia OMIM:614038
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency OMIM:619425
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Premature ovarian insufficiency ORPHA:126
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Alpha-Heavy Chain Disease
Premature ovarian insufficiency, Splenomegaly, Hepatomegaly, Ascites ORPHA:100025
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis OMIM:154800
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Pparg-Related Familial Partial Lipodystrophy
Polycystic ovaries, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatome... ORPHA:79083
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency OMIM:618124
Lymphatic Malformation 9
Tortuous lymphatic vessels, Predominantly lower limb lymphedema OMIM:619319
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Lymphedema, Polycystic ovaries ORPHA:2176
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Aromatase Deficiency
Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Macroorchidism, postpub... ORPHA:91
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Goiter, Abnormal penis morphology, Testicular neoplasm, Precocious puberty, A... ORPHA:457059
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia OMIM:193670
Cowden Syndrome 5
Goiter, Hydrocele testis, Ovarian cyst OMIM:615108
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Cowden Syndrome 6
Goiter, Hydrocele testis, Varicocele, Ovarian cyst OMIM:615109
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Arrhythmia ORPHA:2928
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Nonimmune hydrops fetalis, Splenomegaly, Pleural effusi... OMIM:616843
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:612885
Lymphatic Malformation 3
Lymphedema OMIM:613480
Opitz Gbbb Syndrome
Cryptorchidism, Shawl scrotum, Enlarged ovaries, Bifid scrotum, Bicornuate uterus, Hypospadias ORPHA:2745
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Necrobiosis Lipoidica
Telangiectasia of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Reduced natural k... OMIM:619281
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Lymphedema, Hepatomegaly ORPHA:79279
Dohle Bodies And Leukemia
Anemia, Lymphedema, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Abnormal vagina morphology, Hepatomegaly, Polyhydramnios, Ascites ORPHA:2123
Acquired Generalized Lipodystrophy
Polycystic ovaries, Abnormal cardiovascular system physiology, Hepatomegaly, Cardiomyopathy, Hype... ORPHA:79086
Cystic Echinococcosis
Renal cyst, Abnormality of the testis size, Hepatomegaly, Ovarian cyst, Hepatic cysts ORPHA:400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circula... OMIM:614470
Senior-Loken Syndrome
Premature ovarian insufficiency, Hypertension ORPHA:3156
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
45,X/46,Xy Mixed Gonadal Dysgenesis
Ovotestis, Chordee, Cryptorchidism, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, Ov... ORPHA:1772
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Enlarged kidney, Hypertrophic cardiomyopathy, Labial hypertrophy, Enlarged ovaries, Hepatomegaly,... ORPHA:508
Nathalie Syndrome
Short stature, Arrhythmia ORPHA:2663
Rothmund-Thomson Syndrome, Type 1
Premature ovarian insufficiency, Male hypogonadism OMIM:618625
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Pruritus, Myeloproliferative disorder, Splenomegaly, Restrictive cardiomyopathy OMIM:607685
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Elevated circulating luteinizing hormon... ORPHA:90797
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatomeg... OMIM:235255
German Syndrome
Lymphedema OMIM:231080
Cowden Syndrome 1
Varicocele, Ovarian carcinoma, Ovarian cyst, Goiter, Hydrocele testis OMIM:158350
Lymphatic Malformation 5
Hypoplasia of lymphatic vessels, Facial edema, Predominantly lower limb lymphedema OMIM:153200
Histiocytoid Cardiomyopathy
Cardiomegaly, Renal cyst, Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congest... ORPHA:137675
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Short stature, Ventricular septal... ORPHA:49827
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Greenberg Dysplasia
Abnormal leukocyte morphology, Lymphedema ORPHA:1426
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Lymphatic Malformation 2
Lymphedema OMIM:611944
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Lumbar Syndrome
Hypoplastic labia majora, Myelomeningocele, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrot... ORPHA:83628
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Donnai-Barrow Syndrome
Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Perrault Syndrome 2
Streak ovary OMIM:614926
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Polycystic ovaries, Hypertension, Atrioventricular block, Premature thelarche, Nodular goiter ORPHA:371428
Retinitis Pigmentosa 42
Pallor OMIM:612943
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Lymphatic Malformation 1
Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, Hyperkeratosis over edematous areas, ... OMIM:153100
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Biliary tract neoplasm ORPHA:662
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular ... OMIM:617021
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Mucopolysaccharidosis Type 7
Hydrops fetalis, Splenomegaly, Lymphedema, Hepatitis, Ascites ORPHA:584
Ehlers-Danlos Syndrome, Classic-Like
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphedema, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Lissencephaly 2
Lymphedema OMIM:257320
Retinitis Pigmentosa 60
Pallor OMIM:613983
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Transaldolase Deficiency
Abnormality of the clitoris, Hepatosplenomegaly, Hydrops fetalis, Telangiectasia, Edema ORPHA:101028
Retinitis Pigmentosa 81
Pallor OMIM:617871
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites,... ORPHA:69735
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penile hypospadias, Glandular hypospadias, Cryptorchidism, Micropenis, Polyhydramnios, Penoscrota... ORPHA:456328
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Oligohydramnios, Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Polycystic ovaries, Congestive heart failure, Abnormal atrioventricular conduction, Hypertrophic ... ORPHA:280365
Cowden Syndrome
Mucosal telangiectasiae, Adenoma sebaceum, Abnormal penis morphology, Abnormality of the uterus, ... ORPHA:201
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Micropenis, Azoospermia, Non-... ORPHA:432
Coronary Arterial Fistula
Cardiomegaly, Patent foramen ovale, Patent ductus arteriosus, Congestive heart failure, Abnormal ... ORPHA:2041
Lissencephaly 7 With Cerebellar Hypoplasia
Lymphedema OMIM:616342
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Renal cyst, Cryptorchidism, Ovarian cyst, Multicystic kidney dysplasia, Ap... OMIM:614527
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cardiomyopathy, Hepatomegaly, Polycystic ovaries, Splenomegaly ORPHA:370
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hydrops fetalis, Hepatomegaly, Lymphedema, Oligohy... ORPHA:1318
Optic Atrophy 9
Pallor OMIM:616289
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Increased circulating prolactin concen... ORPHA:562
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia ORPHA:2141
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency, Increased ... ORPHA:243
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Hypertension, Precocious puber... OMIM:202010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Hypertension, Hepatomegaly, Polycystic ovaries OMIM:151660
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Predominantly lower limb lymphedema ORPHA:261519
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:169154
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency ORPHA:101006
Peripheral Cone Dystrophy
Pallor OMIM:609021
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Polycystic ovaries, Cryptorchidism, Micropenis, Abnormality of femal... ORPHA:95699
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Erythema nodosum, Cutaneous abscess, Ce... ORPHA:3392
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy, Hepatomegaly, Polycystic ovaries, Splenomegaly ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Hepatomegaly, Polycystic ovaries ORPHA:79240
Al-Gazali-Bakalinova Syndrome
Lymphedema OMIM:607131
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Lymphangiectasis, Lymphedema, Edema, Predominantly lower limb lymphedema ORPHA:182
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Pallor, Tachycardia ORPHA:276556
Lymphatic Malformation 4
Lymphedema, Hydrocele testis OMIM:615907
46,Xy Sex Reversal 4
Hypoplastic labia majora, Gonadal dysgenesis, Sex reversal, Hypergonadotropic hypogonadism, Hypop... OMIM:154230
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Histiocytosis, Increased circulating IgM lev... OMIM:209950
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary OMIM:618841
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Polycystic ovaries, Elevated circulating luteinizing hormone level, Ele... ORPHA:572333
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Abnormal cardiac ventricular functio... ORPHA:98826
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Chronic... OMIM:616740
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina, Hypoparathyroidism OMIM:146255
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Ele... OMIM:241080
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Pallor, Tachycardia ORPHA:276575
Lymphedema ORPHA:2485
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Palpitations, Syncope, Pallor, Tachycardia ORPHA:276580
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Lymphedema, Oligohydramnios OMIM:613623
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Multicystic kidney dysplasia, Congenital posterior ure... ORPHA:2970
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema ORPHA:3137
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Male pseudohermaphroditism, Ambi... ORPHA:347
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly ORPHA:98848
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Premature ventricular contraction, Dextrocardia, ... ORPHA:1686
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy OMIM:300707
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Patent ductus arteriosus, Congestive heart failure, Atrial septa... ORPHA:1880
Aggressive Systemic Mastocytosis
Pancytopenia, Pruritus, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis... ORPHA:98850
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Splenomegaly, Spontan... OMIM:613470
Lymphedema-Hypoparathyroidism Syndrome
Lymphedema, Pulmonary lymphangiectasia OMIM:247410
Secondary Intestinal Lymphangiectasia
Anasarca, Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulatin... ORPHA:90363
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Wolff-Parki... OMIM:619705
Optic Atrophy 1
Pallor OMIM:165500
Lipodystrophy, Congenital Generalized, Type 1
Polycystic ovaries, Splenomegaly, Hepatomegaly, Labial hypertrophy, Cardiomyopathy, Clitoral hype... OMIM:608594
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Cor... OMIM:613485
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... ORPHA:249
Hand-Foot-Genital Syndrome
Bicornuate uterus, Abnormality of the urethra, Hypospadias, Abnormality of the uterus ORPHA:2438
German Syndrome
Lymphedema ORPHA:2077
Cantu Syndrome
Lymphedema, Pericardial effusion OMIM:239850
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Long Qt Syndrome 16
Second degree atrioventricular block, Bradycardia, T-wave alternans, Patent ductus arteriosus aft... OMIM:618782
Lipodystrophy, Congenital Generalized, Type 2
Polycystic ovaries, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Labial hypertrophy, ... OMIM:269700
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Congestive heart... ORPHA:1359
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Imperforate hymen OMIM:237100
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy, Growth delay OMIM:500007
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocarditis, Myoc... ORPHA:3099
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Predominantly lower limb lymphedema, Lymphede... ORPHA:2035
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Orofaciodigital Syndrome I
Myelomeningocele, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hypertension, Hepa... OMIM:311200
Adult-Onset Still Disease
Pruritus, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Generalized lymp... ORPHA:829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Lymphedema OMIM:152950
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Monosomy 18P
Lymphedema ORPHA:1598
Tenosynovial Giant Cell Tumor
Joint swelling, Lymphedema ORPHA:66627
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Milroy Disease
Lymphedema, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Recurrent skin infections, Splenomegaly, Anemia, Abnormality of... OMIM:612840
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Tachycardia, Syncope, Palpitations ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Hennekam Syndrome
Chylothorax, Lymphangioma, Hydrops fetalis, Splenomegaly, Decreased circulating antibody level, P... ORPHA:2136
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Polycystic kidney dyspl... ORPHA:2237
Retinitis Pigmentosa 70
Pallor OMIM:615922
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Partial absence of specific ant... OMIM:618986
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Pleural effusion, Thyroid lymphangiectasia, Periorbital edema, Lymph... OMIM:235510
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Pruritus, Abnormal mast cell morphology, Normocytic anemia, Leukocytosis, Chronic m... ORPHA:98849
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Lymphadenopathy, Skin rash OMIM:611762
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal T-wave, Micropenis, Abnormal spermatogenesis, Hypoplasia of th... ORPHA:3464
Lymphatic Malformation 10
Lymphedema OMIM:619369
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Intrauterine growth retardation, Arrhythmia, Congestive heart failure OMIM:616198
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Arrhythmia OMIM:618453
Ring Chromosome 22 Syndrome
Lymphedema, Edema, Pleural effusion ORPHA:1446
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Hand-Foot-Genital Syndrome
Chordee, Micropenis, Uterus didelphys, Longitudinal vaginal septum, Bifid scrotum, Hypospadias OMIM:140000
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Retinitis Pigmentosa 27
Pallor OMIM:613750
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent skin infections, Cuta... OMIM:619752
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Sex reversal, Aplasia of the uterus, Adrenocorticotropic hormone excess, Cryptorchid... ORPHA:168558
Non-Functioning Paraganglioma
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Hypertension associated with ph... ORPHA:94080
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Lymphedema, Palpebral edema, Pulmonary lymphangiectasia OMIM:137940
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Noonan Syndrome
Abnormal platelet function, Hepatomegaly, Lymphedema, Abnormality of the spleen, Abnormality of t... ORPHA:648
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrops fetalis, Lymphedema, Oligohydramnios OMIM:601927
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Sex reversal, Aplasia of the uterus, Adrenocorticotropic hormone excess, Cryptorchid... ORPHA:289548
Noonan Syndrome 13
Lymphedema OMIM:619087
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormality of the uterus ORPHA:2470
Klippel-Trenaunay-Weber Syndrome
Lymphedema, Lymphangioma OMIM:149000
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatomegaly OMIM:230400
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Buschke-Ollendorff Syndrome
Lymphedema ORPHA:1306
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay OMIM:615234
Renal Agenesis
Aplasia/hypoplasia of the uterus, Oligohydramnios, Hypertension, Absent vas deferens ORPHA:411709
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Spontaneous, recurrent epistaxis, Spleno... OMIM:214500
Teebi Hypertelorism Syndrome 1
Shawl scrotum, Hydrocele testis, Bicornuate uterus OMIM:145420
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Duplication Of Urethra
Penile hypospadias, Chordee, Septate vagina, Micropenis, Uterus didelphys, Rectourethral fistula,... ORPHA:237
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Chordee, Polycystic ovaries, Cryptorchidism, Micropenis, Vesicovaginal fistula, La... OMIM:201750
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Maculopapular exanthema, Splenomegaly, Neutrope... ORPHA:398124
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Histiocytoid cardiomyopathy, Arrhythmia, Micropenis, Hypoplasia of the uterus... OMIM:309801
Hemoglobin D Disease
Pallor ORPHA:90039
Oeis Complex
Rectovaginal fistula, Myelomeningocele, Cryptorchidism, Micropenis, Ambiguous genitalia, female, ... OMIM:258040
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Breath-Holding Spells
Pallor OMIM:607578
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Vaginal atresia, Transverse vaginal septum, Vesicovaginal f... OMIM:236700
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency OMIM:619518
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Acro-Renal-Mandibular Syndrome
Uterus didelphys, Bicornuate uterus, Oligohydramnios ORPHA:958
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Ferguson-Bonni Neurodevelopmental Syndrome
Premature ovarian insufficiency OMIM:619699
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Hypogonadism, Hy... ORPHA:110
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labia morphology, Elevat... ORPHA:251510
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Intracranial hemorrhage ORPHA:398189
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Left-to-right shunt, Hypospadias, Premature ovarian insufficiency, Endometriosis ORPHA:363444
Retinitis Pigmentosa 73
Pallor OMIM:616544
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Cryptorchidism, Micropenis, Vaginal atresia, Splenomegaly, Hepatomegaly, Abno... ORPHA:1655
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Absent external genitalia, Oligohydramnios, Urethra... OMIM:271520
Proteus Syndrome
Renal cyst, Testicular neoplasm, Pulmonary embolism, Sudden cardiac death, Splenomegaly, Long pen... ORPHA:744
Fabry Disease
Anemia, Lymphedema OMIM:301500
Familial Exudative Vitreoretinopathy
Lymphedema, Macular edema ORPHA:891
Takenouchi-Kosaki Syndrome
Lymphedema, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Hypoplasia of the ovary, Pituitary hypothyroidism, Orthostatic hy... ORPHA:66628
Pagod Syndrome
Arrhythmia, Abnormal morphology of female internal genitalia, Sudden cardiac death, Abnormality o... ORPHA:991
Clapo Syndrome
Lymphedema, Lymphangioma ORPHA:168984
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema OMIM:607823
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Splenomegaly, Abscess, Granuloma, Hemolytic anemia, Perianal abscess, Impaire... OMIM:618935
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Myocarditis, Cardiomyopathy, Pallor ORPHA:3386
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestiv... ORPHA:363705
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Polycystic ovaries, Hepatomegaly, Hypertension, Pulmonary venous hypertension, E... ORPHA:79259
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Chylothorax, Pulmonary lymphangiomyomatosis, Lymphedema, Lymphadenopathy, Ascites, Chylopericardi... ORPHA:538
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Orthostatic ... ORPHA:179494
Coffin-Siris Syndrome 9
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Lymphedema-Distichiasis Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153400
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA level, Molluscum conta... OMIM:260920
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Lymphedema ORPHA:137667
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eczema, Erythroderma... OMIM:304790
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Dahlberg-Borer-Newcomer Syndrome
Lymphedema ORPHA:1563
Autoimmune Hemolytic Anemia
Pallor, Arrhythmia, Congestive heart failure ORPHA:98375
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Microphthalmia, Syndromic 9
Cryptorchidism, Bicornuate uterus, Hypoplasia of the uterus, Pulmonic stenosis OMIM:601186
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Evans Syndrome
Pallor, Syncope, Petechiae, Epistaxis ORPHA:1959
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Tachycardia, Congestive heart failure ORPHA:90037
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Short stature, Growth delay OMIM:615631
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Hb Bart'S Hydrops Fetalis
Pallor, Congestive heart failure, Pericarditis ORPHA:163596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Phelan-Mcdermid Syndrome
Lymphedema, Palpebral edema OMIM:606232
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Cryptorchidism, Bicornuate uterus OMIM:156810
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Pulmonary artery stenosis ORPHA:435938
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypovolemia, Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females,... ORPHA:90794
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Mitral valve prolapse, Precocious ... ORPHA:230839
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypertension, Left ventricular hypertrophy... OMIM:209900
Fryns Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Polyhydramnios, Bicornuate uterus, Hypospadias ORPHA:2059
Waardenburg Syndrome
Abnormal vagina morphology, Myelomeningocele, Abnormality of the uterus ORPHA:3440
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Oligohydramnios, Bilateral cryptorchidism, Premature ovarian insufficiency, Decreased re... ORPHA:96179
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Bicornuate uterus, Polycystic kidney dysplasia, Unicornuate uter... OMIM:200980
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal platelet function, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, Neutrophilia, Pulmona... OMIM:619644
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Bicornuate uterus, Labial hypoplasia, Aortic regurgitation, Clitoral hypertrophy ORPHA:140952
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the urethra ORPHA:37202
Pseudotrisomy 13 Syndrome
Cryptorchidism, Bicornuate uterus, Micropenis OMIM:264480
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, Short stature, Ventr... OMIM:609053
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Lymphedema, Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Splenomegaly, Erythroderma,... ORPHA:39041
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Anterior hypopituitarism, Secondary growth hormone deficiency, Red... ORPHA:2235
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Papillary cystadenoma of the epididymis, Multicystic kidney dysplasia, Bicornuate uterus, Aplasia... ORPHA:93111
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Predominantly lower limb lymphedema ORPHA:293939
Abnormality of the uterus ORPHA:59315
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, B... OMIM:619652
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Hypo... OMIM:137920
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Neutropenia, Anemia, Reticulocytop... ORPHA:88
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Incre... ORPHA:453499
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Cryptorchidism, Non-obstructive azoospermia, Aplasia/hypoplasia of the ute... ORPHA:2232
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Gonadal dysgenesis, Urogenital sinus anoma... OMIM:618820
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hydrops fetalis, Hypoplasia of penis, Meningocele ORPHA:2879
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Wolff-Parkinson-White s... OMIM:540000
Dystonia 23
Arrhythmia OMIM:614860
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Dextrocardia, Double outlet right ventricle, H... ORPHA:99125
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Oligohydramnios ORPHA:1848
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Arrhythmia, Congestive heart failure ORPHA:225
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Hypertr... OMIM:302060
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Mosaic Trisomy 9
Cryptorchidism, Hydrops fetalis, Hypoplasia of penis, Abnormality of the uterus, Hypoplastic fema... ORPHA:99776
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Intrauterine growth retarda... ORPHA:500
Ulnar-Mammary Syndrome