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Gene: Sptbn1 MGI:98388

Gene Summary

Name:

spectrin beta, non-erythrocytic 1

Synonyms:

9930031C03Rik, spectrin G, non-erythrocytic, Spnb2, Spnb-2, brain spectrin, beta fodrin, elf1, elf3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased body weight	Sptbn1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.88×10^-06
decreased total body fat amount	Sptbn1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.95×10^-05
decreased circulating serum albumin level	Sptbn1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.03×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (2 of 2)
Gall bladder	N/A	heterozygote	50% (1 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	50% (1 of 2)
Mammary gland	N/A	heterozygote	Ambiguous
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	50% (1 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	50% (1 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle tissue	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	100% (2 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Sptbn1^{tm1a(EUCOMM)Wtsi}
head, WT, Male, WTSI

Sptbn1^{tm1a(EUCOMM)Wtsi}
body, WT, Female, WTSI

Sptbn1^{tm1a(EUCOMM)Wtsi}
head, WT, Female, WTSI

Sptbn1^{tm1a(EUCOMM)Wtsi}
forearm, WT, Female, WTSI

View all 120 images

Sptbn1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Sptbn1^{tm1a(EUCOMM)Wtsi}
eye, abnormal pupil morphology, impaired pupillary reflex, abnormal placement of pupils, HET, Female, WTSI

Sptbn1^{tm1a(EUCOMM)Wtsi}
eye, abnormal placement of pupils, HET, Male, WTSI

Human diseases caused by Sptbn1 mutations

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

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

Human diseases associated with Sptbn1 (1 diseases)
Human diseases predicted to be associated with Sptbn1 (1485 diseases)

The table below shows human diseases associated to Sptbn1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Developmental Delay, Impaired Speech, And Behavioral Abnormalities		Aortic regurgitation, Congestive heart failure, Palpebral edema, Ventricular septal defect, Bicus...	OMIM:619475

The table below shows human diseases predicted to be associated to Sptbn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Hypodontia, Squamous cell carcinoma, Aplasia/Hypoplasi...	ORPHA:50944
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized...	ORPHA:2221
Maffucci Syndrome	Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A...	ORPHA:163634
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovari...	ORPHA:83469
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Subependymoma	Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ...	ORPHA:251639
Ependymoma	Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ...	ORPHA:251636
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism, Neurofibroma	ORPHA:2430
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Thyroid Cancer, Nonmedullary, 4	Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm	OMIM:616534
Ovarian Cancer	Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma	OMIM:167000
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Ovarian neoplasm, Breast carcinoma	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Ovarian neoplasm, Breast carcinoma	OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Werner Syndrome	Premature graying of hair, Neoplasm of the oral cavity, Slender build, White forelock, Type II di...	ORPHA:902
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen...	ORPHA:206484
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Abnormal peritoneum morphology	ORPHA:2023
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Cowden Syndrome 1	Hearing impairment, Narrow mouth, Ovarian cyst, High palate, Carcinoma, Varicocele, Thyroid adeno...	OMIM:158350
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Sensorineural hearing impairment, Thickened ears, Hepat...	ORPHA:3473
Fanconi Anemia, Complementation Group S	Dental malocclusion, Thick upper lip vermilion, Macrodontia, Long eyelashes, Ovarian carcinoma, L...	OMIM:617883
Mast Cell Sarcoma	Hepatomegaly, Hypoplasia of the ear cartilage, Sarcoma, Splenomegaly	ORPHA:66661
Acquired Ichthyosis	Lymphoma, Neoplasm, Renal insufficiency, Sarcoma, Multiple myeloma	ORPHA:454
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Diffuse leiomyomatosi...	ORPHA:314478
Infantile Myofibromatosis	Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In...	ORPHA:2591
Beckwith-Wiedemann Syndrome	Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external ge...	OMIM:130650
Bazex Syndrome	Yellow nails, Lip hyperpigmentation, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to...	OMIM:613752
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo...	ORPHA:1501
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Lower limb muscle weakness, Pelvic...	ORPHA:370348
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr...	OMIM:619868
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Progressive Osseous Heteroplasia	Sarcoma, Abnormality of the parathyroid gland	ORPHA:2762
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Polyembryoma	Increased serum serotonin, Gonadal neoplasm, Neoplasm of head and neck, Abnormality of the endocr...	ORPHA:180229
Lynch Syndrome	Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop...	ORPHA:144
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th...	ORPHA:137608
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Asbestos Intoxication	Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick...	ORPHA:2302
46,Xy Sex Reversal 6	Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Hirsutism, Sparse axillary hair, Chordee,...	OMIM:613762
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Macroglossia, Ovarian n...	ORPHA:65285
Cranioacrofacial Syndrome	Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Pleural effusion, Ovarian fibroma, Peri...	ORPHA:314473
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Ollier Disease	Precocious puberty, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatos...	ORPHA:296
Coffin-Siris Syndrome 2	Small nail, Hearing impairment, Cryptorchidism, High palate, Abnormal pinna morphology, Abnormal ...	OMIM:614607
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Frasier Syndrome	Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k...	OMIM:136680
Yellow Nail Syndrome	Nephropathy, Biliary tract neoplasm, Yellow nails, Toenail dysplasia, Recurrent respiratory infec...	ORPHA:662
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Hearing impairment, Vestibular schwannom...	ORPHA:137605
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Abnormal hair morphology, Tall stature, Oligozoospermia, Macroorc...	ORPHA:3000
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Macrotia	OMIM:300886
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Nephroblastoma, Overgrowth, Enlarged kidney	OMIM:618272
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Tall stature, Cryptorchidism, Conge...	ORPHA:116
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Thick lower lip vermilion, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism, M...	OMIM:300238
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Ab...	ORPHA:2722
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Maxil...	ORPHA:1193
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal hair morphology, Abnormal finge...	ORPHA:3071
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Hypertrichosis, Overgrowth of external genit...	ORPHA:528
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Lujan-Fryns Syndrome	Low-set ears, Abnormality of the dentition, Dental crowding, Camptodactyly of finger, Protruding ...	ORPHA:776
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Paraneoplastic Pemphigus	Thymoma, Oral ulcer, Oral mucosal blisters, B-cell lymphoma, Sarcoma	ORPHA:63455
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Oliver-Mcfarlane Syndrome	Alopecia, Distal amyotrophy, Decreased response to growth hormone stimulation test, Long eyelashe...	OMIM:275400
Cronkhite-Canada Syndrome	Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fingernail m...	ORPHA:2930
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Abnormality of the liver, Ragged-red muscle fibers, Myopathy, Increased muscle lipid content, Hep...	ORPHA:254864
Eng-Strom Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Alpha-Mannosidosis	Narrow palate, Abnormal helix morphology, Dental malocclusion, Hearing impairment, Widely spaced ...	ORPHA:61
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma	OMIM:176100
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Recurrent upper respiratory tract infections, Hearing impairment, Congeni...	ORPHA:284180
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, I...	ORPHA:90790
Familial Adenomatous Polyposis 1	Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Adrenocortic...	OMIM:175100
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Renal neoplasm, Sarcoma, Neoplasm of the central nervous system	ORPHA:69077
Dermatofibrosarcoma Protuberans	Neoplasm of the skin, Fibrosarcoma	ORPHA:31112
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Adenocarcinoma of the colon, Elevated circulating hepatic transaminase...	ORPHA:100079
Alpha-Heavy Chain Disease	Alopecia, Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly	ORPHA:100025
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Liposarcoma	Sarcoma, Abnormality of the kidney	ORPHA:69078
Sialuria	Low-set ears, Long philtrum, Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsuti...	OMIM:269921
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Uplifted earlobe, Macroorchidism, Synophrys	OMIM:300143
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Multiple unerupted teeth, Brain neoplas...	ORPHA:79665
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Hearing impairment, Melanoma, Abnormality of ...	ORPHA:201
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Abnormal oral mucosa morphology, Renal ...	ORPHA:85445
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Tall stature, Obesity, Prominent med...	OMIM:300602
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Small nail, Decreased testicular size, External genital hypoplasia, Nail dy...	OMIM:610644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Open mouth, Cryptorchidism, Left ventricular hypertrophy, Micropenis, Macrogl...	OMIM:613156
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Thick lower lip vermilion, Hypogonadism, Decreased testicular size, Distal lower limb amyotrophy,...	OMIM:300354
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Oligosacchariduria, Delayed eruption of teeth, Hypertrichosis, Long philtrum, He...	OMIM:616354
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ...	OMIM:249670
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Triploidy	Intestinal malrotation, Low-set, posteriorly rotated ears, Abnormality of the gallbladder, Wide m...	ORPHA:3376
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Zimmermann-Laband Syndrome 2	Hypertrichosis, Long eyelashes, Thick eyebrow, Gingival overgrowth, Hirsutism, Sensorineural hear...	OMIM:616455
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Megalencephaly	Macroorchidism, Long penis, Atrial septal defect, Truncal obesity	ORPHA:2477
Trisomy 17P	Aortic valve stenosis, Low-set ears, Hearing impairment, Narrow mouth, Low posterior hairline, Ge...	ORPHA:261290
Trisomy 20P	Abnormality of the ureter, Cryptorchidism, Abnormal antihelix morphology, Low posterior hairline,...	ORPHA:261318
Erythrokeratodermia Variabilis	Neoplasm of the skin, Alopecia, Hearing impairment, Abnormal hair morphology, Generalized hirsuti...	ORPHA:317
Mitochondrial Myopathy, Infantile, Transient	Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied muscle fibers, Hepatomega...	OMIM:500009
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Contractures of the large joints, Protruding tongue, Mitral valve prolapse...	ORPHA:324410
Nemaline Myopathy 9	Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect	OMIM:615731
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Tinnitus, Renal cortical adenoma, Ovarian neoplasm, Glucocorto...	ORPHA:231632
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Carious teeth, Sparse lateral eyebrow, Ridged nail, Actinic keratosis, Na...	OMIM:614564
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Arthrogryposis-like hand anomaly, Horizontal eyebrow, Downturned corners of mouth, ...	ORPHA:369891
Fixed Subaortic Stenosis	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:3092
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Transient Neonatal Diabetes Mellitus	Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Hearing im...	ORPHA:99886
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Abnormal dental enamel morphology, Sparse eyelashes, Enamel hypoplasia, Thin verm...	ORPHA:139474
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Ankle flexion contracture, Macroglossia, Elbow flexion contracture, Thick eyebrow, Knee flexion c...	ORPHA:280384
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hearing impairment, Mult...	OMIM:151800
Meckel Syndrome, Type 8	Low-set ears, Cleft upper lip, Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion,...	OMIM:613885
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox...	OMIM:253300
Coffin-Siris Syndrome 3	Hearing impairment, Long philtrum, Hypertrichosis, Abnormal heart morphology, Long eyelashes, Thi...	OMIM:614608
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi...	OMIM:610755
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Autosomal Spastic Paraplegia Type 18	Ankle flexion contracture, Flexion contracture of toe, Elbow flexion contracture, Thick eyebrow, ...	ORPHA:209951
Monosomy 22	Contractures of the large joints, Long philtrum, Meningioma, Gonadal neoplasm, Schwannoma, Hepato...	ORPHA:96123
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Alopecia, Decreased response to growth hormone stimulation test, Hy...	ORPHA:3363
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Recurrent pneumonia, Hypertrichosis, Hepatosplenomegaly, Hypothyroidism, Deep philt...	OMIM:619750
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Atypical Werner Syndrome	Aortic valve stenosis, Neoplasm of the skin, Aortic valve calcification, Insulin-resistant diabet...	ORPHA:79474
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Schopf-Schulz-Passarge Syndrome	Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr...	OMIM:224750
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hearing impairment, Renal agenesis, Elbow flexion contracture, Crypto...	OMIM:618440
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoos...	OMIM:235200
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Kleefstra Syndrome 1	Natal tooth, Hearing impairment, Obesity, Persistence of primary teeth, Conotruncal defect, Crypt...	OMIM:610253
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato...	ORPHA:731
Diaphanospondylodysostosis	Low-set ears, Pulmonary hypoplasia, Nephroblastomatosis, Hypoplastic fingernail, Horseshoe kidney...	OMIM:608022
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
X-Linked Intellectual Disability, Shashi Type	Obesity, Macroorchidism, Everted lower lip vermilion, Macrotia	ORPHA:85286
Down Syndrome	Type II diabetes mellitus, Narrow mouth, Acute megakaryocytic leukemia, Ventricular septal defect...	ORPHA:870
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate...	OMIM:616276
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Atrial septal defect, Hepatomegaly, Nephrotic syndrome, Macrovesicular he...	OMIM:617303
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Kleefstra Syndrome	Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aor...	ORPHA:261494
Classic Mycosis Fungoides	Neoplasm of the skin, Alopecia, Lymphoma, Splenomegaly, Hepatomegaly, Abnormality of the nail, Cu...	ORPHA:2584
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Hearing impairment, Sparse bod...	ORPHA:1008
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po...	ORPHA:480536
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Sensorineural hearing impairme...	ORPHA:202
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal renal physiolo...	ORPHA:158057
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Abnormal helix morphology, Small nail, Supernumerary nipple, Tall s...	ORPHA:373
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys...	ORPHA:79501
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Open mouth, Cryptorchidism, Patent foramen ovale, Transposition of the great arteri...	OMIM:616789
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc...	OMIM:616827
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Mitral valve prolapse, Sparse eyelashes, Bilate...	OMIM:618874
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase co...	OMIM:608836
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Ventricular...	ORPHA:769
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse, Macrotia	OMIM:300624
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Fragile X Syndrome	Otitis media, Mitral valve prolapse, Protruding ear, Macroorchidism, Chronic otitis media, Macrotia	ORPHA:908
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Highly arched eyebrow, Downturned corners of mouth, Hearing impairment, Te...	ORPHA:96147
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ...	OMIM:615415
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cleft upper lip, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibr...	OMIM:109400
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Alg6-Cdg	Low-set ears, Protein-losing enteropathy, Macroglossia, Puberty and gonadal disorders, Abnormalit...	ORPHA:79320
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Neoplasm of the skin, Alopecia, Carious teeth, Abnormality of th...	ORPHA:659
Monosomy 9Q22.3	Low-set ears, Delayed eruption of teeth, Long philtrum, Tall stature, Large for gestational age, ...	ORPHA:77301
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Proteus Syndrome	Low-set ears, Rib exostoses, Pulmonary cyst, Carious teeth, Decreased muscle mass, Myofibrillar m...	ORPHA:744
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Obesity, Wrist flexion contracture, High palate, Facial hypotonia, Macroorchid...	OMIM:300055
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent upper respiratory tract infections, Nephrotic syndrome, Recurrent urinary tra...	OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Dental crowding, Tall stature, Open mouth, Ventricular septal defect, Thin upper li...	OMIM:309520
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Palmoplantar Carcinoma, Multiple Self-Healing	Long philtrum, Squamous cell carcinoma, Nail dystrophy, Carcinoma	OMIM:615225
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 115 With Autoinflammation	Elevated circulating C-reactive protein concentration, Abnormal circulating creatine kinase conce...	OMIM:620632
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Myopathy, Hypothyroidism, Jaundice, Skeletal muscle hypertrophy	ORPHA:2349
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v...	OMIM:616501
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Hirsutism, ...	ORPHA:90301
Crouzon Syndrome	Conductive hearing impairment, Dental crowding, Atresia of the external auditory canal, High pala...	OMIM:123500
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Apert Syndrome	Bifid uvula, Conductive hearing impairment, Delayed eruption of teeth, Sensorineural hearing impa...	ORPHA:87
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Desmoid Tumor	Neoplasm of the skin, Intestinal polyposis, Intestinal obstruction, Hydronephrosis, Abnormality o...	ORPHA:873
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Enlarged kidney	OMIM:615285
47,Xyy Syndrome	Low-set ears, Varicocele, Tall stature, Azoospermia, Cryptorchidism, Micropenis, Increased serum ...	ORPHA:8
Tuberous Sclerosis 2	Chordoma, Hearing impairment, Cardiac rhabdomyoma, Renal angiomyolipoma, Subungual fibromas, Aden...	OMIM:613254
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Failure to thrive, Increased circulating f...	OMIM:616050
Candidiasis, Familial, 1	Alopecia, Abnormality of the endocrine system, Premature loss of teeth	OMIM:114580
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Patent foramen ovale, Inclusion body fibromatosis, Camptoda...	ORPHA:88630
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl...	OMIM:616052
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent...	ORPHA:1354
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615297
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Cryptorchidism...	OMIM:214100
Tuberous Sclerosis 1	Precocious puberty, Dental enamel pits, Preauricular hair displacement, Chordoma, Cardiac rhabdom...	OMIM:191100
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Hearing impairment, Hamartoma of tongue, Hypothalamic hamartoma, Cleft ear...	OMIM:619775
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Squamous cell carcinoma, Verrucae	OMIM:618267
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Terminal Osseous Dysplasia	Low-set ears, Camptodactyly of finger, Multiple joint contractures, Camptodactyly of toe, Fibroma...	OMIM:300244
Perlman Syndrome	Low-set ears, Distal ileal atresia, Visceromegaly, Renal hamartoma, Everted upper lip vermilion, ...	OMIM:267000
Schinzel-Giedion Syndrome	Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Streak ovary, Hepatoblastoma,...	ORPHA:798
Dyskeratosis Congenita, X-Linked	Carious teeth, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Hodgkin lymphoma, Acu...	OMIM:305000
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma, Premat...	OMIM:618373
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620135
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Small scrotum, Hydroureter, Ureteral stenosis, Hypertrichosis, Hypoplastic labia mi...	OMIM:269150
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Steinert Myotonic Dystrophy	Neoplasm of the skin, Intestinal pseudo-obstruction, Hyperinsulinemia, Choroidal melanoma, Brain ...	ORPHA:273
Sézary Syndrome	Neoplasm of the skin, Alopecia, Skeletal muscle atrophy, Lymphoma, Abnormal pleura morphology, Na...	ORPHA:3162
H Syndrome	Alopecia, Hearing impairment, Cleft upper lip, Hypertrichosis, Hypogonadism, Abnormal eyebrow mor...	ORPHA:168569
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ...	ORPHA:523
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Enamel hypoplasia	OMIM:618349
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Alg3-Cdg	Hearing impairment, Cardiomyopathy, Decreased liver function, Abnormal pinna morphology, High pal...	ORPHA:79321
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Abnormal pinna morpholog...	OMIM:200995
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Low po...	ORPHA:79328
Ventricular Septal Defect 3	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Renpenning Syndrome	High, narrow palate, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atrophy, Macrotia, ...	ORPHA:3242
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple...	ORPHA:220460
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate	OMIM:600331
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Thauvin-Robinet-Faivre Syndrome	Tall stature, Large for gestational age, Bifid ureter, Nephroblastoma, Mitral valve prolapse, Ven...	OMIM:617107
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased...	ORPHA:91349
Al Amyloidosis	Abnormal cardiac ventricle morphology, Nephrotic syndrome, Macroglossia, Xerostomia, Abnormal hea...	ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr...	OMIM:608840
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Overgrowth, Multiple lipomas, Ovarian serous cystadenoma, Hydrocele testis, Enlar...	ORPHA:276280
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes...	ORPHA:44890
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Patent ductus arteriosus, Pedal edema, Ventricular septal defect	OMIM:126320
Chromosome 5Q12 Deletion Syndrome	Long philtrum, Overfolded helix, Patent foramen ovale, Ventricular septal defect, Posteriorly rot...	OMIM:615668
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Skeletal muscle atrophy, Sparse eyelashes, Nail dysplasia, Delayed pube...	OMIM:615704
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Intestinal pseudo-obstruction, Delayed eruption of teeth, Hypertrichosis, Ab...	OMIM:309900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Ambiguous genitali...	OMIM:613091
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Congenital hypothyroidism, Increased body weight, Increased T3/T4 rati...	OMIM:614450
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ventricular septal defect, Curly hair, Hepatomegaly, High p...	OMIM:618268
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133700
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Partington Syndrome	Macroorchidism	ORPHA:94083
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, White hair, Premature graying of hair, Displace...	ORPHA:1775
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Supernumerary nipple, Prominent crus of helix, Cryptorchidism, Hip contracture, Sen...	OMIM:619194
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Birth length greater ...	OMIM:312870
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Ethanolaminosis	Cardiomegaly	OMIM:227150
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ...	ORPHA:1209
Solitary Fibrous Tumor	Uterine neoplasm, Genital neoplasm, Urinary retention, Pelvic mass, Vaginal neoplasm, Neoplasm, P...	ORPHA:2126
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Hearing impairment, Widely spaced teeth, Gingival overgrowth, Cryptorchidi...	OMIM:618143
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Ascites, Nephroblastoma, Cardiomegaly, Hypodo...	OMIM:253250
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Ba...	OMIM:268400
Gm1 Gangliosidosis	Low-set ears, Cardiomyopathy, Aspiration pneumonia, Abnormal heart morphology, Long philtrum, Hep...	ORPHA:354
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Obesity, Macroorchidism	ORPHA:3077
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Renal hypoplasia, Long philtrum, Nail dystrophy, Ventricular septal defect...	ORPHA:75389
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Anauxetic Dysplasia 2	Small nail, Nail dysplasia, Hypodontia, Macroglossia, Flexion contracture, Sparse hair	OMIM:617396
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Alopecia, Elevated circulating hepatic transaminase concentration, Bif...	ORPHA:2959
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Pyloric stenosis, Long philtrum, Hypertrichosis, Abnormal heart valve morp...	ORPHA:363705
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Calf muscle hypertrophy, Macroglossia, Flexion contracture, F...	OMIM:613155
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat...	ORPHA:500095
Nicolaides-Baraitser Syndrome	High, narrow palate, Highly arched eyebrow, Alopecia, Long philtrum, Long eyelashes, Curly eyelas...	ORPHA:3051
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	ORPHA:226313
Oncogenic Osteomalacia	Renal phosphate wasting, Neurofibroma, Neoplasm of head and neck, Hyperphosphaturia, Neoplasm of ...	ORPHA:352540
Neurofibromatosis Type 1	Neoplasm of the skin, Hearing impairment, Tall stature, Cryptorchidism, Multiple lipomas, Leukemi...	ORPHA:636
Bresek Syndrome	Low-set ears, Alopecia, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Decrease...	ORPHA:85284
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Sensorineural hearing impairment, Squamous ce...	OMIM:602540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin...	OMIM:242150
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Dermatomyositis	Alopecia, Elevated circulating hepatic transaminase concentration, Lymphoma, Neoplasm, Inflammato...	ORPHA:221
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Alopecia, Oral leukoplakia, Squamous cell carcinoma of the skin, De...	OMIM:620040
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Fingernail dy...	ORPHA:2251
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy...	OMIM:160980
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Narrow palate, Long philtrum, Ventr...	OMIM:617022
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Narrow mouth, Nail dystrophy, Oral mucosal blisters, Nail dysplasia, Squamous cell carc...	OMIM:226600
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Abnormality of the dentition, Periodontitis, Atrophy of alveolar ridges, Hy...	ORPHA:678
Mucopolysaccharidosis, Type Iiid	Low-set ears, Macroglossia, Recurrent upper respiratory tract infections, Coarse hair, Hearing im...	OMIM:252940
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Abnormal spleen morphology, Multiple renal cy...	ORPHA:464329
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Widely-spaced maxillary central incisors, Diastema, Thick lower lip vermilion, Rena...	OMIM:301040
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Facial hypertrichosis, Dental crowding, Oligosacchariduria, Long philtrum, Hepatosplenomegaly, Se...	ORPHA:397709
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Full Schwannomatosis	Hearing impairment, Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neopla...	ORPHA:93921
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Cholestasis, Hepatosplenomegaly, Frontal upsweep of hair, Congenital hepatic fibros...	OMIM:266920
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Cardiomyopathy, Wi...	OMIM:253220
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Prostatitis, Abnorm...	ORPHA:449395
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Sparse pubic hair, Male hypogonadism, Decreased serum testosterone con...	ORPHA:52901
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva...	OMIM:276700
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Squamous cell carcinoma of ...	OMIM:127550
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Sp...	OMIM:607626
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive	OMIM:608776
Mucolipidosis Ii Alpha/Beta	Progressive alveolar ridge hypertropy, Recurrent otitis media, Recurrent bronchitis, Brittle hair...	OMIM:252500
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, Ventricular septal def...	ORPHA:453499
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Menin...	ORPHA:189427
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Orofaciodigital Syndrome I	Low-set ears, Dry hair, Carious teeth, Hearing impairment, Ankyloglossia, Ovarian cyst, High pala...	OMIM:311200
Milroy Disease	Neoplasm of the skin, Toenail dysplasia, Hydrocele testis, Angiosarcoma	ORPHA:79452
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnor...	ORPHA:2325
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial ...	OMIM:601927
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal co...	OMIM:604387
Costello Syndrome	Low-set ears, Mitral valve prolapse, Ventricular septal defect, Atrial septal defect, Thin nail, ...	OMIM:218040
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped...	ORPHA:2299
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Dental crowding, Recurrent otitis media, Macroglossia, Recurrent r...	OMIM:618523
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Carious teeth, Abnormality of the ureter, Anodontia, Bilateral cleft palate, Spars...	ORPHA:3253
Phakomatosis Pigmentokeratotica	Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Unilateral renal hypoplasia, Cryptorchi...	ORPHA:2874
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Down Syndrome	Conductive hearing impairment, Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal def...	OMIM:190685
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer,...	ORPHA:79259
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,...	ORPHA:1332
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating...	OMIM:613038
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hearing impairment, Aspiration pneumonia, Abnormal toenail morphology, Ventricular septal defect,...	ORPHA:444077
Pontocerebellar Hypoplasia, Type 9	Facial hypotonia, Macroglossia, Abnormal pinna morphology, Short upper lip	OMIM:615809
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Weight loss, Hypoalbuminemia	ORPHA:2070
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Sensorineural hearing impairmen...	OMIM:193300
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial...	OMIM:306955
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, ...	ORPHA:99880
Mpi-Cdg	Hypoalbuminemia, Failure to thrive	ORPHA:79319
Leprechaunism	Low-set ears, Facial hypertrichosis, Clitoral hypertrophy, Hyperinsulinemia, Hepatomegaly, Rectal...	ORPHA:508
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse scalp hair, Hearing impairment, Sparse body hair, Macrotia, Aplasia/Hypoplasia o...	ORPHA:2850
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Premature graying of hair, Fibrosarcoma, Limb muscle weakness, Myopathy,...	OMIM:112250
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Decreased circulating T4 concentration, Macroglossia, Elevated circu...	ORPHA:95717
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect	OMIM:616277
Noonan Syndrome 12	Tetralogy of Fallot, Supravalvular aortic stenosis, Polyhydramnios, Ventricular septal defect	OMIM:618624
Aromatase Deficiency	Tall stature, Obesity, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism,...	ORPHA:91
Intellectual Developmental Disorder, Autosomal Recessive 30	Macroglossia	OMIM:614342
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Uterine neoplasm, Aspiration pneumonia, Vaginal neoplasm, St...	ORPHA:1018
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Failure to thrive	OMIM:608104
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Meacham Syndrome	Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atrial septal defec...	OMIM:608978
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Highly arched eyebrow, Cupped ear, Downturned corners of mouth, Widely spaced teeth...	OMIM:156200
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Mucopolysaccharidosis Type 3	Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Abnormal mitral va...	ORPHA:581
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Hy...	ORPHA:96191
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma...	OMIM:150800
Catel-Manzke Syndrome	Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:1388
Parathyroid Carcinoma	Nephrocalcinosis, Peptic ulcer, Elevated circulating parathyroid hormone level, Renal hamartoma, ...	ORPHA:143
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepati...	OMIM:300280
Athyreosis	Macroglossia, Thyroid agenesis, Hypothyroidism	ORPHA:95713
Basal Cell Nevus Syndrome 2	Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma	OMIM:620343
Endocrine-Cerebroosteodysplasia	Low-set ears, Small scrotum, Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper lip v...	OMIM:612651
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car...	ORPHA:217390
Hurler Syndrome	Hearing impairment, Cardiomyopathy, Recurrent otitis media, Heparan sulfate excretion in urine, H...	OMIM:607014
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ACTH concent...	OMIM:219080
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Recurrent urinary tract infections, Renal duplication, Abnormality of the pulmon...	ORPHA:33001
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Peripheral edema, Mitral regurgitation, Pul...	ORPHA:75249
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair, Abnormal morphology of female internal genitalia, Furrowed tong...	ORPHA:1839
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso...	ORPHA:99889
Omenn Syndrome	Pneumonia, Alopecia, Lymphoma, Splenomegaly, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, H...	ORPHA:39041
Gorlin Syndrome	Carious teeth, Meningioma, Neoplasm, Medulloblastoma, Cryptorchidism, Cardiac fibroma, Hypogonado...	ORPHA:377
Weill-Marchesani Syndrome	Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Intestinal bleeding, Bile duct polyp, Intussuscepti...	OMIM:175200
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia	ORPHA:398063
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con...	ORPHA:90674
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia	ORPHA:2494
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Ogden Syndrome	Low-set ears, Everted upper lip vermilion, Thick upper lip vermilion, Recurrent otitis media, Cry...	OMIM:300855
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Alopecia, Hydroureter, Dental crowding, Cupped ear, Conductive hearing impairment, ...	OMIM:616367
Transaldolase Deficiency	Biventricular hypertrophy, Telangiectasia, Atrial septal defect, Hydrops fetalis, Edema	ORPHA:101028
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Difficulty in tongue movements, Oligosacchariduria, Hearing impairment, Hypertrophic cardiomyopat...	ORPHA:308552
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive	OMIM:226990
Tbck-Related Intellectual Disability Syndrome	High, narrow palate, Skeletal muscle atrophy, Long philtrum, Decreased response to growth hormone...	ORPHA:488632
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Cardiomyopathy, Aspiration pneumonia, Long philtrum, Hepatosple...	ORPHA:79255
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Abnormal heart morphology, Decreased testicular size, External gen...	ORPHA:1867
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Abnormality of the male genitalia, Volvulus, Thick lower lip vermil...	ORPHA:847
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L...	OMIM:615355
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Mannosidosis, Alpha B, Lysosomal	Hypertrichosis, Widely spaced teeth, Thick eyebrow, Gingival overgrowth, Splenomegaly, Low anteri...	OMIM:248500
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97261
L-Ferritin Deficiency	Alopecia	OMIM:615604
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Highly arched eyebrow, Gingival overgrowth, Tented upper lip vermilion, Exaggerated cupid's bow, ...	OMIM:616900
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Atrial septal ...	OMIM:615873
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Familial Colorectal Cancer Type X	Uterine neoplasm, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, Neoplasm of...	ORPHA:440437
Wild Type Abeta2M Amyloidosis	Abnormality of the thenar eminence, Intestinal pseudo-obstruction, Abnormal tendon morphology, Ab...	ORPHA:85446
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Small nail, Hearing impairment, Cryptorchidism, Hypoplastic labia majora, Hypospadi...	OMIM:268310
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Encephalocraniocutaneous Lipomatosis	Alopecia, Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Ventricular ...	OMIM:613001
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Dysostosis, Stanescu Type	Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, A...	ORPHA:1798
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent...	ORPHA:88618
Moynahan Syndrome	Hypogonadism, Alopecia, Sparse hair, Sensorineural hearing impairment	ORPHA:2574
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Male hypogonadism, Cholelithiasis, Type I dia...	OMIM:240300
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Abnormal vagina morphology, Delayed eruption of teeth, An...	ORPHA:2315
Acromegaly	Pituitary prolactin cell adenoma, Tall stature, Abnormal toenail morphology, Generalized hirsutis...	ORPHA:963
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Sparse body hair, Congen...	OMIM:602032
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Tachyca...	OMIM:613870
Macroglossia	Macroglossia	OMIM:153630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:352665
Cowden-Like syndrome	Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma	OMIM:612359
Chromosome 14Q11-Q22 Deletion Syndrome	Low-set ears, Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Long ...	OMIM:613457
Pancreatic Cancer	Increased level of L-fucose in urine, Neoplasm of the pancreas	OMIM:260350
Sotos Syndrome	Small cell lung carcinoma, Small nail, Hearing impairment, Tall stature, Cryptorchidism, Hip cont...	ORPHA:821
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Hypertrichosis, Abnormal heart morphology, Heparan sulfate excretion in urine, Long...	ORPHA:505248
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect	OMIM:616816
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Low-set ears, Abnormality of the dentition, Alopecia, Supernumerary nipple, Sensorineural hearing...	ORPHA:3224
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exercise-induced myo...	OMIM:607155
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased circulating T4 concentration, Macroglossia, Hypothyroidism, Decreased thyroid-stimulati...	OMIM:275100
X-Linked Agammaglobulinemia	Alopecia, Recurrent pneumonia, Hepatitis, Neoplasm, Sensorineural hearing impairment, Abnormal lu...	ORPHA:47
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Kerion Celsi	Alopecia	ORPHA:499
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypertriglyceridemia	OMIM:619013
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, External genital hypoplasia, Hepatosplenomegaly, Hirsutism, ...	ORPHA:79330
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Infantile Sialic Acid Storage Disease	Fair hair, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic synd...	OMIM:269920
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Carious teeth, Skeletal muscle atrophy, Central adrenal insuffic...	OMIM:612079
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric...	ORPHA:90308
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Partial atrioventricular canal defect, Ventricular septal defect, Atrial ...	OMIM:615996
Sandhoff Disease	Urinary incontinence, Skeletal muscle atrophy, Hepatosplenomegaly, Increased urinary N-acetylgluc...	OMIM:268800
Hurler Syndrome	Hearing impairment, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Thi...	ORPHA:93473
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Premature graying of hair, ...	ORPHA:363618
Fucosidosis	Low-set ears, Oligosacchariduria, Hearing impairment, Thick lower lip vermilion, Thick eyebrow, S...	OMIM:230000
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp...	OMIM:613854
Turcot Syndrome With Polyposis	Glioma, Hearing impairment, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell ...	ORPHA:99818
Ring Chromosome 12 Syndrome	High, narrow palate, Low-set ears, Secundum atrial septal defect, Dystrophic toenail, Glandular h...	ORPHA:1439
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Cleft lip, Sparse body hair, Congenital onychodystrophy, Nail dys...	ORPHA:2890
Lichen Planopilaris	Alopecia, Hepatitis, Neoplasm of the oral cavity, Abnormal fingernail morphology, Abnormal intest...	ORPHA:525
Somatomammotropinoma	Abnormality of the dentition, Pituitary adenoma, Increased circulating prolactin concentration, P...	ORPHA:314769
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Thin eyebrow, Sparse eye...	OMIM:612841
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Melanoma, Squamous cell carcinoma	ORPHA:90342
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Conductive hearing impairment, Vagal paraganglioma, Che...	OMIM:168000
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Distal 22Q11.2 Microduplication Syndrome	Low-set ears, Unilateral renal agenesis, Abnormal helix morphology, Long philtrum, Camptodactyly ...	ORPHA:261337
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enam...	OMIM:610965
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Lower limb muscle weakness, 3-Methylglutaconic aciduria, Rhabdomyolysis, Myoglobinuria...	OMIM:251900
Fibrodysplasia Ossificans Progressiva	Alopecia, Conductive hearing impairment, Widely spaced teeth, Sensorineural hearing impairment, H...	OMIM:135100
Oculocerebrocutaneous Syndrome	Alopecia, Hearing impairment, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Cr...	ORPHA:1647
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr...	ORPHA:805
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, T...	OMIM:269200
Johnson Neuroectodermal Syndrome	Alopecia, Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, H...	ORPHA:2316
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Patent ductus arteriosus, Ventricular septal defect	ORPHA:1455
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Trans...	OMIM:314390
Keratoderma Hereditarium Mutilans	Alopecia, Hearing impairment, Abnormal toenail morphology, Sensorineural hearing impairment, Hypo...	ORPHA:494
Pili Torti	Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab...	ORPHA:2889
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri...	OMIM:612561
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub...	OMIM:617093
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Alopecia, Horseshoe kidney, Abnormal dental morphology, Hyperphosphaturia, Ov...	OMIM:163200
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, High palate, Tented upper lip vermilion	OMIM:616025
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Hearing impairment, Thick lower lip vermilion, Abno...	ORPHA:583
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hearing impairment, Open bite, Brittle hair, High palate, Sparse ha...	ORPHA:2750
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Cardiomyopathy, Ascites, Portal hypertension, Bradycardia, Polyhydramnio...	OMIM:232500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect	OMIM:249270
Glycogen Storage Disease Ii	Firm muscles, Urinary incontinence, Hearing impairment, Pleural effusion, Splenomegaly, Limb musc...	OMIM:232300
Alg8-Cdg	Low-set ears, Elevated circulating hepatic transaminase concentration, Ascites, Camptodactyly, Ma...	ORPHA:79325
Criss-Cross Heart	Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep...	ORPHA:1461
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism	OMIM:604931
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Cleft palate, Osteosarcoma	OMIM:180200
Li-Campeau Syndrome	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Elevated urinary catecholamine level, Gastrointesti...	OMIM:115310
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,...	ORPHA:99094
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618330
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Sparse hair, Macrotia	OMIM:613576
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Failure to thrive	OMIM:602579
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small nail, Hepatosplenomegaly, Narrow mouth, Cryptorchidism, Ventricular septal defect, Hepatobl...	ORPHA:96334
Rapp-Hodgkin Syndrome	Carious teeth, Small nail, Velopharyngeal insufficiency, Supernumerary nipple, Hearing impairment...	OMIM:129400
Vitamin K Antagonist Embryofetopathy	Macroglossia, Hearing impairment, Microtia	ORPHA:1914
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail banding, Nail dystrophy, In...	OMIM:601675
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin...	ORPHA:369950
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu...	OMIM:171400
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia, Cortical tubers	OMIM:600273
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar...	ORPHA:2298
Alpha-Mannosidosis, Adult Form	Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Mixed hearing impairment, Macroglossia	ORPHA:309288
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Flexion contracture, Failure to thrive	ORPHA:367
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Small for gestational age	OMIM:617021
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:615524
Developmental And Epileptic Encephalopathy 112	Macroglossia	OMIM:620537
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:261243
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con...	ORPHA:247353
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Chemodectoma, Adrenal ph...	OMIM:605373
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Onychogryposis of toenails...	ORPHA:2309
Necrobiosis Lipoidica	Squamous cell carcinoma, Abnormality of the thyroid gland, Diabetes mellitus	ORPHA:542592
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Oral Submucous Fibrosis	Narrow mouth, Oropharyngeal squamous cell carcinoma, Abnormal oral cavity morphology, Flexion con...	ORPHA:357154
Lethal Recessive Chondrodysplasia	Macroglossia	ORPHA:1423
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Conical tooth, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Low-set ears, Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Abn...	ORPHA:95699
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Renal cys...	OMIM:617100
Chanarin-Dorfman Syndrome	Alopecia, Hepatic steatosis, Myopathy, Sensorineural hearing impairment, Everted lower lip vermil...	OMIM:275630
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of...	ORPHA:370959
Xeroderma Pigmentosum, Complementation Group F	Neoplasm of the skin, Hearing impairment, Squamous cell carcinoma, Basal cell carcinoma, Keratoac...	OMIM:278760
Williams Syndrome	Carious teeth, Open bite, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polyc...	ORPHA:904
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased circulating ferritin con...	OMIM:603553
Flynn-Aird Syndrome	Alopecia, Carious teeth, Alopecia of scalp, Progressive sensorineural hearing impairment	OMIM:136300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Nail dy...	OMIM:148210
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Abnormality of the dentition, Dystroph...	OMIM:614929
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u...	ORPHA:653
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:90673
Tenorio Syndrome	Macroglossia, Recurrent pneumonia, Hypertrichosis, Recurrent aphthous stomatitis, Thick eyebrow, ...	OMIM:616260
Gapo Syndrome	Low-set ears, Alopecia, Sparse eyebrow, Delayed eruption of teeth, Long philtrum, Hearing impairm...	ORPHA:2067
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Heparan sulfate ex...	OMIM:252920
Thyroid Hypoplasia	Jaundice, Macroglossia, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Highly arched eyebrow, Low-set ears, Triangular-shaped open mouth,...	OMIM:213300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova...	ORPHA:2232
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Cupped ear, Nail dystrophy, Protruding ear, Atrial septal defect, Brittle hair, Macrogl...	ORPHA:93947
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Hyperparathyroidism, Transient Neonatal	Low-set ears, Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarge...	OMIM:618188
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Low-set ears, Pulmonary hypoplasia, Congenital pulmonary airway malformation, Cleft lip, Hypoplas...	OMIM:611812
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia	ORPHA:90362
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal dental mo...	ORPHA:248
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c...	ORPHA:89842
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Decreased muscle mass, Decreased serum testosterone concentration, Portal hyperte...	ORPHA:465508
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Small scrotum, Alopecia, Conical tooth, Abnormality of the dentition, Fine hair, Hy...	ORPHA:228390
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Low-set ears, Protruding tongue, Chronic bronchitis, Macroglossia, Bronchiectasis	OMIM:242860
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Thick lo...	OMIM:162300
Clouston Syndrome	Abnormality of the dentition, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, ...	OMIM:129500
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Small nail, Horseshoe kidney, Cryptorchidism, Ventricular septal defect, ...	ORPHA:166035
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Aicardi Syndrome	Precocious puberty, Recurrent pneumonia, Sparse lateral eyebrow, Cleft upper lip, Metastatic angi...	OMIM:304050
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Alopecia, Hypospadias, Bilateral cryptorchidism	OMIM:618840
Lymphoproliferative Syndrome, X-Linked, 1	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:308240
Serkal Syndrome	Oligohydramnios, Congenital diaphragmatic hernia, Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Ascites, Pleural effusion, Absent eyelashes, Absent eyebrow, Hydrocel...	ORPHA:69735
Genitopalatocardiac Syndrome	Transposition of the great arteries, Double outlet right ventricle, Ventricular septal defect	OMIM:231060
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Recurrent otitis media, Flexion contracture of finger, Hepatomegaly, E...	OMIM:256040
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Recurrent respiratory infections, Aspartylglucosamin...	ORPHA:93
Kury-Isidor Syndrome	Low-set ears, Alopecia, Long philtrum, Hypertrichosis, Widely spaced teeth, Recurrent otitis medi...	OMIM:619762
Focal Dermal Hypoplasia	Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Acute hepatic failure, Open bite,...	ORPHA:2092
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Carious teeth, Alopecia totalis, Cryptorchidism, Melanoma, Calcinosis, Basa...	ORPHA:221008
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Abnormal antihelix morphology, Protruding ear, Smooth philtrum, Evert...	ORPHA:261144
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Tricu...	OMIM:212093
Ring Chromosome 13 Syndrome	Alopecia, Bifid scrotum, Retinoblastoma, Primary hypothyroidism, Short philtrum, Posteriorly rota...	ORPHA:96176
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Alopecia, Gastrointestinal carcinoma, Xerostomia, Nail dystrophy, Nai...	OMIM:175500
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia	ORPHA:1667
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, Flexion cont...	OMIM:203550
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Pl...	OMIM:261740
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Alopecia, Type I diabetes mellitus, Biliary cirrhosis, Hepatitis, An...	ORPHA:227990
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El...	ORPHA:400
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Alopecia, Type I diabetes mellitus, Graves disease, Hepatitis, Anter...	ORPHA:227982
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Membranoproliferative g...	ORPHA:251004
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Lymphoid Interstitial Pneumonia	Subpleural interstitial thickening, Respiratory tract infection, Multiple pulmonary cysts, Hepato...	ORPHA:79128
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:618974
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Abnormality of the dentition, Alopecia, Nail dystrophy, Oral mucosal blisters, Nail dysplasia	ORPHA:79397
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ...	ORPHA:1882
Ane Syndrome	Generalized amyotrophy, Alopecia, Carious teeth, Adrenocorticotropin deficient adrenal insufficie...	ORPHA:157954
Familial Hyperaldosteronism Type I	Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ...	ORPHA:403
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal morphology of female internal genitalia, Ungual fibroma, Emphy...	ORPHA:538
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, High palate, Brittle hair	ORPHA:50812
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hearing impairment, Ascites, Cardiomegal...	ORPHA:858
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Short lingual frenulum, Cryptorchidism, Short hard palate, Hypoplastic labia majora...	OMIM:180700
Coffin-Siris Syndrome 4	Macroglossia, Everted upper lip vermilion, Long philtrum, Hypertrichosis, Mitral atresia, Thick l...	OMIM:614609
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased response to growth hormone ...	ORPHA:226307
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Truncus arteriosus, Portal hypertension, Ventricular septal defect	OMIM:616589
Familial Hyperaldosteronism Type Ii	Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Gluc...	ORPHA:404
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Carious teeth, Delayed eruption of teeth...	OMIM:253200
Oculocerebrocutaneous Syndrome	Alopecia, Cryptorchidism, Cleft palate	OMIM:164180
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Carious teeth, Alopecia totalis, Cryptorchidism, Melanoma, Calcinosis, Basa...	ORPHA:221016
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ...	ORPHA:392
Angelman Syndrome	Fair hair, Widely spaced teeth, Obesity, Protruding tongue, Macroglossia, Wide mouth	OMIM:105830
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Juvenile Polyposis Syndrome	Hypoalbuminemia, Failure to thrive, Hypokalemia	OMIM:174900
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia	ORPHA:43393
Rothmund-Thomson Syndrome	Neoplasm of the skin, Carious teeth, Small nail, Alopecia totalis, Sparse eyelashes, Melanoma, Ca...	ORPHA:2909
Monosomy 18P	Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Macrotia, Abnormal antih...	ORPHA:1598
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Bohring-Opitz Syndrome	Cholelithiasis, Cleft lip, Annular pancreas, Urinary retention, Congenital contracture, Hypertric...	ORPHA:97297
Macrophage Activation Syndrome	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer...	ORPHA:158061
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Hearing impairment, Open bite, Ankyloglossia, Cryptorchidism, Ventr...	ORPHA:1507
Neurofibromatosis, Type I	Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Renal artery stenosis, Plexiform ne...	OMIM:162200
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma ...	ORPHA:139411
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Alopecia, Thick vermilion border, Renal insufficiency, Abnormal renal glo...	OMIM:137940
Hadziselimovic Syndrome	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect	OMIM:612946
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Unilateral cleft lip, Large fleshy ears, Hypertrophic cardiomyopathy, Ascites, Pleu...	OMIM:616897
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Low-set ears, Small scrotum, Open mouth, Cryptorchidism, Protruding tongue, Sensorineural hearing...	OMIM:309580
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Recurrent upper respiratory tract infections, Diastema, Decreased testicular size...	OMIM:300534
Fanconi Anemia, Complementation Group P	Hearing impairment, Horseshoe kidney, Cryptorchidism, Squamous cell carcinoma, Pelvic kidney	OMIM:613951
Fibrodysplasia Ossificans Progressiva	Alopecia, Hearing impairment	ORPHA:337
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Decreased testicular size, Cryptorchidism, Protruding ear, Patchy alopec...	ORPHA:85279
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i...	OMIM:203800
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Progressive hearing im...	ORPHA:453533
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun...	ORPHA:3427
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Polyhydramnios, Diastasis recti, Ventricular septal defect	ORPHA:254534
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
19P13.13 Microdeletion Syndrome	Low-set ears, Long eyelashes, Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Macrogloss...	ORPHA:357001
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Hypernatremia	OMIM:615508
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina...	OMIM:619055
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi...	OMIM:615830
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Alopecia, Graves disease, Hypogonadism, Abnormality of the thyroid glan...	ORPHA:3143
Scimitar Syndrome	Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea...	ORPHA:185
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartat...	OMIM:212140
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Hearing impairment, Open bite, Cryptorchidism, Anodon...	ORPHA:3107
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Alopecia, Sparse eyebrow, Rib exostoses, Natal...	ORPHA:2108
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite...	OMIM:256550
Glycogen Storage Disease Due To Acid Maltase Deficiency	Difficulty in tongue movements, Oligosacchariduria, Atelectasis, Lower limb muscle weakness, Hype...	ORPHA:365
Macs Syndrome	Eclabion, Alopecia, Sparse eyebrow, Long philtrum, Recurrent aphthous stomatitis, Gingival overgr...	OMIM:613075
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Right Atrial Isomerism	Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at...	OMIM:208530
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias	OMIM:201710
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial septal defect...	ORPHA:84064
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:401935
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly, Pulmon...	OMIM:614096
Björnstad Syndrome	Hypogonadism, Sensorineural hearing impairment, Alopecia, Brittle hair	ORPHA:123
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ...	OMIM:141300
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Failure to thrive, Elevated circulating alpha-fetoprotein co...	OMIM:251880
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Low-set ears, Neurofibroma, Hearing impairment, Abnormal heart morphology, Tall stature, Plexifor...	OMIM:613675
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Absent...	OMIM:607823
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Slender build, Open mouth, Cryptorchidism, Hand muscl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Slender build, Open mouth, Cryptorchidism, Hand muscl...	ORPHA:363958
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do...	OMIM:220210
Tyshchenko Syndrome	Polyhydramnios, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615102
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Long eyelashes, Cardiomegaly, Hepatomega...	OMIM:619064
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Cantu Syndrome	Congenital hypertrophy of left ventricle, Long philtrum, Thick lower lip vermilion, Thick upper l...	OMIM:239850
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Alopecia, Decreased response to growth hormone stimulation test, Smooth philtrum, T...	OMIM:601853
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:263630
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Abnormality of the urethra, Dystrophic toenail, ...	ORPHA:2907
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Conductive hearing impairment, El...	ORPHA:276621
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib...	OMIM:212065
Bannayan-Riley-Ruvalcaba Syndrome	Uterine neoplasm, Abnormal large intestine morphology, Skeletal muscle atrophy, Lymphoma, Capilla...	ORPHA:109
Alpha-Mannosidosis, Infantile Form	Pneumonia, Highly arched eyebrow, Oligosacchariduria, Widely spaced teeth, Recurrent urinary trac...	ORPHA:309282
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car...	ORPHA:60032
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ...	ORPHA:97214
Coffin-Siris Syndrome	Small nail, Hearing impairment, Aspiration pneumonia, Hypoplastic fifth fingernail, Cryptorchidis...	ORPHA:1465
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:1166
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:261534
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2772
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Cleft soft palate, Mitral valve prolapse,...	OMIM:619472
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Neutral Lipid Storage Disease With Ichthyosis	Small earlobe, Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular ci...	ORPHA:98907
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Smooth tongue, Squamous cell carcinoma of the skin, Distal lower limb amyotrophy, Nail ...	ORPHA:79396
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:613751
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Bloom Syndrome	Recurrent upper respiratory tract infections, Lymphoma, Hypertrichosis, Azoospermia, Type II diab...	OMIM:210900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe...	ORPHA:369929
Icf Syndrome	Low-set ears, Macroglossia, Recurrent respiratory infections, Protruding tongue	ORPHA:2268
Gapo Syndrome	High, narrow palate, Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Thick lower lip v...	OMIM:230740
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Orofacial cleft, Sensorineural hearing impairment	ORPHA:79107
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97278
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Flynn-Aird Syndrome	Alopecia, Carious teeth, Skeletal muscle atrophy, Progressive sensorineural hearing impairment, P...	ORPHA:2047
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive	OMIM:617729
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:540
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, D...	OMIM:614921
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level	OMIM:171420
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Structural Heart Defects And Renal Anomalies Syndrome	Generalized edema, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Atrial sep...	OMIM:617478
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Camptodactyly, Abnormal ad...	ORPHA:79324
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Con...	ORPHA:29072
Nmda Receptor Encephalitis	Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N...	ORPHA:217253
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Atrial septal defect, Ventricular septa...	ORPHA:1913
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Ventricular septal defect	ORPHA:2256
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Hypoplastic right heart, Atrial septal defect, Ventricular septal defect	OMIM:618142
Scalp-Ear-Nipple Syndrome	Low-set ears, Underdeveloped tragus, Multiple lipomas, Sparse hair, Sparse pubic hair, Breast apl...	OMIM:181270
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Furrowed tongue, Facial palsy, Macroglossia, Cheilitis	ORPHA:2483
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Alopecia, Recurrent pneumonia, Recurrent otitis media, Recurrent si...	OMIM:618282
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Bilateral cryptorchidism, Macrotia, Large for gestational a...	ORPHA:544488
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Weight loss, Failure to thrive	OMIM:619487
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema	ORPHA:1054
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Linear Nevus Sebaceus Syndrome	Alopecia, Cavernous hemangioma, Adenoma sebaceum	ORPHA:2612
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearing impairment, Cardio...	ORPHA:217085
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Sparse eyelashes, Acute myeloid leuk...	ORPHA:125
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Adams-Oliver Syndrome	Alopecia, Hypoplastic fingernail, Tetralogy of Fallot, Ascites, Portal hypertension, Abnormal pul...	ORPHA:974
Mucopolysaccharidosis Type 2	Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearing impairment, Contra...	ORPHA:580
Woods Syndrome	Ventricular septal defect	OMIM:615236
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ...	OMIM:618870
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Hypoplasia of the uterus, Skeletal muscle hypertrophy	OMIM:600705
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem...	ORPHA:36234
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent upper respiratory tract infections, Otosclerosis, Conductive hearing impairment, Cardio...	ORPHA:217093
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:881
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin...	ORPHA:37042
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Alopecia, Elevated circulating hepatic transaminase concentration, Lymp...	OMIM:212750
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr...	OMIM:201910
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Flexion contracture, Cleft palate, Sensorineural hearing impairment	OMIM:215100
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Nail dystrophy, Camptodactyly of finger, Nail dysplasia	OMIM:212360
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Oral leukoplakia, Fine hair, Premature graying of hair, Hearing impairment, Nail dystro...	OMIM:613990
Meige Disease	Pleural effusion, Angiosarcoma	ORPHA:90186
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cor pulmonale, Alopecia, Coarse hair, Recurrent pneumonia, Hearing impairment, Erythem...	OMIM:158310
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolaps...	OMIM:602782
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Muscular dystrophy, Cardiomyopathy, Atelectasis, Absent muscle fiber merosin, Muscl...	ORPHA:258
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Natal tooth, Congenital alopecia totalis, Absent hair, Cardiomyopathy,...	ORPHA:158687
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Ventricular septal...	ORPHA:3426
Bartsocas-Papas Syndrome 1	Low-set ears, Small nail, Alopecia totalis, Absent eyelashes, Hypoplastic labia majora, Absent ey...	OMIM:263650
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Hearing impa...	OMIM:241080
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Sensorineural hearing impairment, Reduced c...	OMIM:620651
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Neurofibrosarcoma, Mitral valve prolapse, Ventricular septal defect, Renal hypoplasia/aplasia, At...	ORPHA:363700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Abnormal heart morphology, Alopecia, Hypopigmentation of hair	ORPHA:1067
Hypomelanosis Of Ito	Irregularly spaced teeth, Alopecia, Thick lower lip vermilion	OMIM:300337
Adrenoleukodystrophy	Alopecia, Hearing impairment, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, ...	OMIM:300100
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Fucosidosis	Abnormality of the dentition, Hearing impairment, Decreased muscle mass, Abnormality of the gallb...	ORPHA:349
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97283
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Aspartylglucosaminuria	Recurrent respiratory infections, Thick lower lip vermilion, Aspartylglucosaminuria, Hepatomegaly...	OMIM:208400
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Open mouth, Diastasis recti, Exaggerated cupid's bow, Hydronephrosis, Wrist flexion contracture, ...	ORPHA:254528
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:500159
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Low-set ears, Hearing impairment, Supernumerary nipple, Cry...	OMIM:601803
Kagami-Ogata Syndrome	Diastasis recti, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal defect...	OMIM:608149
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Narrow mouth, Glomerulonephritis, Abnormality of the...	ORPHA:90291
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:618348
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:301039
Epidermodysplasia Verruciformis	Squamous cell carcinoma, Verrucae	ORPHA:302
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Left ventricular hypertrophy, Hypercal...	ORPHA:251274
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Atresia of the external auditory canal, Supernumerary nipple, Sparse body hair, Sparse eyelashes,...	OMIM:106260
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Alopecia, Distal amyotrophy, Hearing impairment, Hypogonadism, Delayed ...	ORPHA:412057
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect	OMIM:616651
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Dystonia-Aphonia Syndrome	Macroglossia, Difficulty in tongue movements, Gingival overgrowth, Abnormal urinary odor	ORPHA:412217
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Narrow mouth, Hypoplastic toenails, Renal hypoplasi...	ORPHA:1234
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, Ventricular septal defec...	OMIM:603387
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Xeroderma Pigmentosum	Aminoaciduria, Abnormality of the dentition, Alopecia, Hearing impairment, Hypogonadism, Decrease...	ORPHA:910
Immunodeficiency, Common Variable, 10	Recurrent pneumonia, Decreased response to growth hormone stimulation test, Alopecia totalis, Rec...	OMIM:615577
Prune Belly Syndrome	Tetralogy of Fallot, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Aplasia of...	ORPHA:2970
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi...	OMIM:616564
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Small for gestation...	OMIM:251300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hepatocellular necrosis, Hypertrophic cardiomyopathy,...	OMIM:201475
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia	OMIM:613571
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Limb hypertonia, Ventricular septal defect	OMIM:619909
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Transaldolase Deficiency	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial septal d...	OMIM:606003
Pheochromocytoma	Elevated urinary norepinephrine level, Pheochromocytoma, Neoplasm, Renal artery stenosis, Protein...	OMIM:171300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,...	ORPHA:99050
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Camptodactyly of finger, Ventricular septal...	ORPHA:1425
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Xerostomia, Splenomegaly, Myositis, Gastritis, Myocarditis, Hepatomegaly, ...	ORPHA:809
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin...	ORPHA:14
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Macrotia, Thenar muscle atrophy, Tall s...	ORPHA:2463
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormal hair morphology, Abnormality of the ova...	ORPHA:3130
Congenital Rubella Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:290
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Oligosacchariduria, Hearing impairment, Cardiomegaly, Thick vermilion border	ORPHA:3137
Thyroid Ectopia	Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the ...	ORPHA:95712
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Abnormal heart morphology, Oligohydramnios, Increased nuchal translucency, Patent foramen ovale, ...	OMIM:618494
Adams-Oliver Syndrome 2	Low-set ears, Alopecia, Small nail, Low anterior hairline, Protruding ear, Limb hypertonia	OMIM:614219
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomegaly, He...	OMIM:600649
Doors Syndrome	Low-set ears, Toenail dysplasia, Atresia of the external auditory canal, Aspiration pneumonia, Sh...	ORPHA:79500
Methimazole Embryofetopathy	Polyhydramnios, Ventricular septal defect	ORPHA:1923
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Elbow flexion contracture, Mitral regurgitation, Mitral valve prolapse, V...	OMIM:121050
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Monilethrix	Abnormality of the dentition, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growi...	ORPHA:573
Pediatric Systemic Lupus Erythematosus	Nephritis, Alopecia, Abnormality of the urinary system, Ascites, Dark urine, Pleural effusion, Re...	ORPHA:93552
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni...	OMIM:617205
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Abnormality of canine, Intestinal bleeding, Long philtrum, Thick upper lip vermilion, Adenomatous...	ORPHA:261584
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy...	OMIM:226650
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Macroglossia, High palate	OMIM:619876
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Joint contracture of the hand, Camptodactyly, Umbilical hernia	OMIM:235510
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Jansen-De Vries Syndrome	Bicuspid aortic valve, Central diaphragmatic hernia, Ventricular septal defect	OMIM:617450
Giant Cell Arteritis	Alopecia, Hepatic failure, Conductive hearing impairment, Hearing impairment, Double outlet right...	ORPHA:397
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Hereditary Mixed Polyposis Syndrome	Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid c...	ORPHA:157794
Pyomyositis	Myositis, Testicular teratoma, Renal insufficiency	ORPHA:764
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Sclerosing cholangitis, Eosinop...	OMIM:243700
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Incontinentia Pigmenti	Alopecia, Ridged fingernail, Verrucae, Dystrophic toenail, Delayed eruption of teeth, Supernumera...	ORPHA:464
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin ...	ORPHA:293978
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Anauxetic Dysplasia 1	Aortic valve stenosis, Elbow flexion contracture, Hip contracture, Microdontia, Hypodontia, Macro...	OMIM:607095
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def...	OMIM:619170
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Sensorineural ...	OMIM:617713
Coffin-Siris Syndrome 7	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr...	OMIM:618027
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g...	ORPHA:3464
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Mitral regurgitation, Atrial septal defect, Ventricular septal defect	OMIM:615879
17Q11 Microdeletion Syndrome	Low-set ears, Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious p...	ORPHA:97685
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect	OMIM:610338
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testic...	OMIM:619321
Joubert Syndrome 18	Camptodactyly, Ventricular septal defect	OMIM:614815
Systemic Lupus Erythematosus 17	Alopecia, Oral ulcer	OMIM:301080
Distal Deletion 19P	Alopecia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Thick eyebrow, Ventri...	ORPHA:96129
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatic failure, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Ren...	ORPHA:228308
Alopecia Totalis	Type I diabetes mellitus, Inflammation of the large intestine, Alopecia totalis, Alopecia of scal...	ORPHA:700
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ...	ORPHA:99330
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def...	OMIM:620642
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma	OMIM:278750
Trichothiodystrophy	Carious teeth, Cryptorchidism, Ventricular septal defect, Brittle hair, Split nail, Bilateral sen...	ORPHA:33364
Porphyria, Congenital Erythropoietic	Alopecia, Cholelithiasis, Joint contracture of the hand, Hypertrichosis, Erythrodontia, Splenomeg...	OMIM:263700
Leigh Syndrome	Generalized aminoaciduria, Alopecia, Hepatic failure, Skeletal muscle atrophy, Methylmalonic acid...	ORPHA:506
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu...	OMIM:617201
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Omenn Syndrome	Pneumonia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:603554
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Carious teeth, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarri...	OMIM:612843
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogry...	OMIM:208085
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sept...	ORPHA:2519
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia, Abnormality of the dentition, Premature loss of primary teeth, Nep...	ORPHA:93160
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dental crowding, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic...	OMIM:608612
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ...	OMIM:619657
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem...	OMIM:616843
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Truncus arteriosus, Vent...	OMIM:609029
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary i...	OMIM:616576
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Patent ductus arteriosus, Ventricular septal defect	OMIM:617751
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect	OMIM:612938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Cleft...	OMIM:613150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, IgA deposition in the glomerulus, Anal fissure, Ankyloglos...	ORPHA:79408
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ...	OMIM:619702
Transketolase Deficiency	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,...	ORPHA:488618
Hyper-Igd Syndrome	Hepatosplenomegaly, Splenomegaly, Oral ulcer, Elevated urine mevalonic acid level, Renal angiomyo...	OMIM:260920
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepa...	OMIM:619991
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat...	ORPHA:329224
Brachydactyly, Type B1	Camptodactyly, Joint contracture of the hand, Ventricular septal defect	OMIM:113000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:619769
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Subcutaneous lipoma	ORPHA:79076
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal...	OMIM:612562
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pul...	OMIM:610733
Microcephaly-Capillary Malformation Syndrome	Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:614261
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Slender build, Inguinal hernia, Hypocalcemia, Unconjugated hy...	OMIM:613658
Incontinentia Pigmenti	Alopecia, Coarse hair, Conical tooth, Delayed eruption of teeth, Fine hair, Supernumerary nipple,...	OMIM:308300
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair	OMIM:104100
Stickler Syndrome	Bifid uvula, Skeletal muscle atrophy, Hearing impairment, Long philtrum, Cleft upper lip, Open bi...	ORPHA:828
Frontonasal Dysplasia 2	Low-set ears, Sparse eyebrow, Conical tooth, Fine hair, Bilateral cryptorchidism, Widely spaced t...	OMIM:613451
Trisomy 1Q	Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu...	ORPHA:261344
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal helix morphology, Abnormal dental enamel morphology, Low-set, posteriorly rota...	ORPHA:1005
Gaucher Disease, Perinatal Lethal	Low-set ears, Hepatic failure, Everted upper lip vermilion, Ascites, Hepatosplenomegaly, Open mou...	OMIM:608013
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	OMIM:103900
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Cheilitis, Abnormality of ...	ORPHA:129
Chromomycosis	Multiple cutaneous malignancies, Squamous cell carcinoma, Abnormal oral cavity morphology, Abnorm...	ORPHA:182
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Cardiomegaly, Pericardial effusion	OMIM:614702
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Cleft upper lip, Congenital adrenal hyperplasia, Increased serum testostero...	ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Adult Syndrome	Abnormality of the dentition, Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypop...	ORPHA:978
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Alopecia, Small nail, Cleft upper lip, Hearing impairment, Hydronephro...	OMIM:308050
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:617516
Burn-Mckeown Syndrome	Hypomimic face, Atrial septal defect, Ventricular septal defect	OMIM:608572
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Exaggerated cupid's bow, Bicuspid aortic valve, Macroglossia, High palate,...	OMIM:614501
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Alopecia, Sparse body hair	ORPHA:177
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Recurrent upper respiratory tract infections, Inflammation of...	OMIM:232240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Oral ulcer, Recurrent...	ORPHA:169154
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Everted lower lip vermilion, Flexion contracture, Spars...	OMIM:242300
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Sensorineural hearin...	ORPHA:35173
Tetraamelia Syndrome 1	Low-set ears, Absent external genitalia, Pulmonary hypoplasia, Renal agenesis, Cleft upper lip, A...	OMIM:273395
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Alopecia, Hepatitis, Villous atrophy, Ileus, Hypothyroidism, Glomerulon...	OMIM:304790
Noonan Syndrome 1	High, narrow palate, Low-set ears, Chylothorax, Juvenile myelomonocytic leukemia, Dental malocclu...	OMIM:163950
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Contractures of the large joints, Insulin-resistant diabetes mellitus,...	ORPHA:2457
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Cirrhotic Cardiomyopathy	Ascites, Pulmonary edema, Left atrial enlargement, Right atrial enlargement, Cirrhosis, Cardiomeg...	ORPHA:57777
Immunodeficiency 7	Recurrent otitis media, Splenomegaly, Patchy alopecia, Hepatomegaly, Recurrent respiratory infect...	OMIM:615387
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Camptodactyly, Pulmonic stenosis, Ventricular septal defect	OMIM:619123
Ogden Syndrome	Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect	ORPHA:276432
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Sparse eyebrow, Abnormality of the dentition, Prelingual sen...	ORPHA:477
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve...	OMIM:600987
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Alopecia, Narrow palate, Periodontitis, Cryptorchidism, Mitral valve prolapse,...	ORPHA:536532
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Transposition of the great arteries, Ventricular sep...	ORPHA:1727
Braddock-Carey Syndrome 1	Camptodactyly, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, H...	OMIM:603903
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Small nail, Abnormal hair morphology, External genital hypoplasia, Everted lower lip ve...	OMIM:242100
Candidiasis, Familial, 8	Macroglossia, Cheilitis	OMIM:615527
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Atrial septal defect, Peau d'orange, Ventricular septal defect	OMIM:614576
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Ventricular septal defect	OMIM:219730
Trisomy 13	Patent ductus arteriosus, Hydrops fetalis, Atrial septal defect, Ventricular septal defect	ORPHA:3378
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Aicardi-Goutières Syndrome	Low-set ears, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath...	ORPHA:51
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Dental crowding, Insulin-resistant diabetes mellitus, Premature loss of teeth, Flexion ...	OMIM:248370
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Renal Agenesis	Oligohydramnios, Hypertension, Ventricular septal defect	ORPHA:411709
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ...	ORPHA:371428
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Limb-Mammary Syndrome	Bifid uvula, Alopecia, Sparse eyebrow, Absent nipple, Cleft lip, Breast aplasia, Aplasia of the o...	ORPHA:69085
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia, Everted lower lip vermilion	OMIM:242510
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Camptodactyly of finger, Abnor...	ORPHA:2908
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Suleiman-El-Hattab Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618950
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ...	ORPHA:254346
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci...	ORPHA:90363
Kapur-Toriello Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2328
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Pulmonary hypoplasia, Hepatic sinusoidal dilatation, Narrow palate, Atelec...	OMIM:620371
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Sarcoidosis	Abnormal pleura morphology, Abnormal reproductive system morphology, Hepatomegaly, Tubulointersti...	ORPHA:797
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect	ORPHA:1488
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Chromosome 6Pter-P24 Deletion Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial sept...	OMIM:612582
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Type I diabetes mellitus, Hepatosplenomegaly, Villous atrophy, Patchy alope...	OMIM:606367
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Pelger-Huet Anomaly	Lower limb hypertonia, Foot dorsiflexor weakness, Ventricular septal defect	OMIM:169400
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec...	ORPHA:435638
Cantú Syndrome	Long philtrum, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Long eyelashes, Thic...	ORPHA:1517
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Hydrolethalus Syndrome 1	Accessory spleen, Low-set ears, Abnormal vagina morphology, Abnormal lung lobation, Complete atri...	OMIM:236680
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Emanuel Syndrome	Aortic valve stenosis, Oligohydramnios, Congenital diaphragmatic hernia, Multiple joint contractu...	ORPHA:96170
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Low-set ears, Deep philtrum, Microtia	OMIM:613320
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect	OMIM:619995
Alopecia Universalis	Alopecia universalis, Type I diabetes mellitus, Abnormality of the thyroid gland, Absent eyelashe...	ORPHA:701
Primary Biliary Cholangitis	Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch...	ORPHA:186
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Multiple joint contractures, Eclabion, Sparse hair	ORPHA:100976
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Knee flexion contracture, Patent ductus arteriosus after premat...	OMIM:620454
Wilson Disease	Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Hyperbilirubinemia, Increased circulating coppe...	OMIM:277900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Double outlet right ventricle, Polyhydramnios, Abnormal left ventricul...	OMIM:301056
Seckel Syndrome 9	Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect	OMIM:616777
Cushing Disease	Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor...	ORPHA:96253
Refsum Disease, Classic	Cardiomyopathy, Limb muscle weakness, Sensorineural hearing impairment, Cardiomegaly, Abnormal re...	OMIM:266500
Short Syndrome	Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Microdontia, Sensorine...	ORPHA:3163
Heart And Brain Malformation Syndrome	Polyhydramnios, Limb hypertonia, Camptodactyly of finger, Ventricular septal defect	OMIM:616920
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Micro...	OMIM:261990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Type I diabetes mellitus, Functional abnormality of...	ORPHA:391487
Diabetic Embryopathy	Tetralogy of Fallot, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition of the g...	ORPHA:1926
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Carious teeth, Elevated circulating parathyroid hormone level, Delayed erup...	OMIM:277440
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular septal defect	OMIM:613404
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Furrowed tongue, Abnormali...	ORPHA:37
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Small nail, Narrow mouth, Cryptorchidism, Sparse eyelashes, Absent eye...	OMIM:264090
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran...	OMIM:605275
Hsd10 Disease, Infantile Type	Hearing impairment, Hypertrophic cardiomyopathy, Abnormality of the lower urinary tract, Cardiome...	ORPHA:391428
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular septal defect	OMIM:614961
Biotinidase Deficiency	Alopecia, Organic aciduria, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly	OMIM:253260
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Tetralogy of Fallot, Congenital diaphragmatic hernia, Truncus arteriosus...	OMIM:601186
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Hearing impairment, Long philtrum, Thin upper lip vermilion, Patchy alopecia, Hypot...	OMIM:617763
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Alopecia, Capillary hemangioma, Neoplasm of the skeletal system, Tricuspid...	ORPHA:2396
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ...	ORPHA:79329
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydram...	ORPHA:99776
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Tooth agenesis, Nail...	OMIM:605676
Relapsing Polychondritis	Alopecia, Hepatitis, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis, Renal in...	ORPHA:728
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Heart ...	OMIM:158170
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Sparse hair, Premature loss of teeth	OMIM:616353
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Low-set ears, Long philtrum, Elbow flexion contracture, Thick eyebrow, Narrow mouth, Congenital d...	OMIM:245600
Yunis-Varon Syndrome	Low-set ears, Clitoral hypertrophy, Hearing impairment, Broad secondary alveolar ridge, Cryptorch...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction, Slende...	OMIM:300967
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:220500
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Ventricular septal defect	ORPHA:494344
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:617452
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Bifid uvula, Alopecia, Abnormal circulating calcium-phosphate regulating hormone co...	ORPHA:2636
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria	OMIM:613677
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Alopecia, Hearing impairment, Breast aplasia, Abnormal eyebrow morp...	ORPHA:90153
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular...	OMIM:115470
Menkes Disease	Alopecia, Sparse hair, Brittle hair	OMIM:309400
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
ERI1-related disease	Abnormal heart morphology, Tricuspid regurgitation, Pulmonary arterial hypertension, Ventricular ...	OMIM:608739
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Combined Oxidative Phosphorylation Deficiency 15	Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson...	OMIM:614947
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus, Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Leprosy	Alopecia, Testicular mass, Skeletal muscle atrophy, Sparse body hair, Abnormality of the spleen, ...	ORPHA:548
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congenital muscular t...	ORPHA:457279
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Oligohydramnios, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect	OMIM:620113
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, Tinnitus, Gl...	ORPHA:231580
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Dental malocclusion, Dental crowding, Decreased serum leptin, Nail dyst...	OMIM:614008
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:457193
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Ritscher-Schinzel Syndrome 2	Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Camptodactyly, Patent d...	OMIM:300963
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Hearing impairment	ORPHA:79394
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Limb joint contracture, Atrial septal defect, Ventricular septal defect	ORPHA:505237
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Right-to-left shunt, Tetralogy of Fallot, Atriove...	OMIM:265380
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Kapur-Toriello Syndrome	Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ...	OMIM:244300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Myo...	ORPHA:257
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Hematochezia, Ventricular septal defect	OMIM:243150
Primary Sclerosing Cholangitis	Hypoalbuminemia, Weight loss	ORPHA:171
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy of Fallot, Aplasia of th...	OMIM:600001
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp...	OMIM:614653
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal hair morphology, Cryptorchidism, Absent eyebrow, Abnormality of the kidney, Sparse hair,...	ORPHA:2273
Acrocardiofacial Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular se...	ORPHA:2008
X Small Rings	Bicuspid aortic valve, Oligohydramnios, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Alopecia, Hypoplastic left heart, Small nail, Cleft upp...	OMIM:100300
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:617159
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:620511
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1335
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect	ORPHA:1908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ascites, Lymphedema, Polyhydramnios, Ventricular septal defect	OMIM:235255
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetralogy of Fallot, Oligohydr...	ORPHA:2255
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect	OMIM:616449
Fanconi Anemia, Complementation Group I	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:609053
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, 3-Methylglutaconic aciduria, Increased hepatic glycogen con...	OMIM:619259
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Elevated circulating parathyroid hormone level	OMIM:600785
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Fa...	OMIM:270400
Alagille Syndrome	Telangiectasia of the skin, Hypertension, Atrial septal defect, Ventricular septal defect	ORPHA:52
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Ventricular septal defect	OMIM:616652
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Hearing impairment	OMIM:618838
Amyloidosis, Hereditary Systemic 1	Hearing impairment, Cardiomyopathy, Sensorineural hearing impairment, Pulmonary edema, Cardiomega...	OMIM:105210
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Polyhydramnios, Camptodactyly, Atrial septal defect, Ventricular septal defect	OMIM:617360
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Urinary incontinence, Alopecia	OMIM:600142
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Phaver Syndrome	Camptodactyly of finger, Ventricular septal defect	ORPHA:2876
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria	ORPHA:79242
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car...	OMIM:614294
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hearing impairment, Cryptorchidism, Absent eyelashes, Absent eyebro...	OMIM:308205
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect	ORPHA:261250
Chronic Graft Versus Host Disease	Alopecia, Elevated circulating hepatic transaminase concentration, Xerostomia, Abnormal vagina mo...	ORPHA:99921
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:277600
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Facial hypertrichosis, Red-brown urine, Purple urine, Erythrodontia, Increa...	ORPHA:79277
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614114
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Ventricular septal defect	OMIM:615503
Focal Dermal Hypoplasia	Low-set ears, Supernumerary nipple, Laryngeal papilloma, Absent toenail, Cryptorchidism, Congenit...	OMIM:305600
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Weight loss, Hypernatremia, Hypoalbuminemia	OMIM:619381
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Pneumothorax, Limb hypertonia, Pulmonary hypoplasia	OMIM:620306
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy	ORPHA:1366
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:270450
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ...	ORPHA:740
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Patent foramen ovale,...	OMIM:617506
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia, Ventric...	OMIM:613309
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven...	OMIM:309801
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Increased nuchal translucency, Ventricular septal defect, Bicuspid aorti...	OMIM:620654
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal...	ORPHA:1329
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect	OMIM:300514
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pat...	ORPHA:2473
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
X-Linked Intellectual Disability, Nascimento Type	Tetralogy of Fallot, Oligohydramnios, Mitral stenosis, Patent foramen ovale, Ventricular septal d...	ORPHA:163956
Kikuchi-Fujimoto Disease	Alopecia, Elevated circulating hepatic transaminase concentration, Enlargement of parotid gland, ...	ORPHA:50918
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Recurrent pneumonia, Carious teeth, Anoperineal fistula, Cheilitis, Chapped...	ORPHA:158668
Sotos Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s...	OMIM:117550
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Flexion contractu...	OMIM:614594
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Uterine rupture, Narrow mouth, ...	ORPHA:286
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:620024
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d...	ORPHA:209905
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Polyhydramnios, Contracture of the proximal interphalangeal joint of the 2nd finger, Atrial septa...	OMIM:300998
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect	ORPHA:96097
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa...	OMIM:620663
Pseudotrisomy 13 Syndrome	Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca...	OMIM:264480
Recombinant 8 Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Pa...	ORPHA:96167
Olmsted Syndrome 2	Sparse hair, Alopecia universalis, Flexion contracture of digit, Woolly hair, Cheilitis	OMIM:619208
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Ventricu...	OMIM:178110
Phelan-Mcdermid Syndrome	Lymphedema, Palpebral edema, Patent ductus arteriosus, Ventricular septal defect	OMIM:606232
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec...	OMIM:607721
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Alopecia, Abnormal hair morphology, Narrow mouth, Nail dystrophy, D...	ORPHA:90154
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Atrial se...	OMIM:610443
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Skeletal muscle atrophy	OMIM:210210
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary window, Pulmonary arterial hypertension, Polyhydramnios...	OMIM:620025
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Hypoalbuminemia	ORPHA:2331
Loeys-Dietz Syndrome 5	Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricular septal defect, Atr...	OMIM:615582
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi...	OMIM:618164
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,...	OMIM:610759
Thakker-Donnai Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia, Ventri...	ORPHA:1780
Bohring-Opitz Syndrome	Ventricular septal defect, Camptodactyly, Atrial septal defect, Polyhydramnios, Flexion contracture	OMIM:605039
Donnai-Barrow Syndrome	Diaphragmatic eventration, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:222448
Lateral Meningocele Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect	OMIM:130720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Oligohydramnios, Ventricu...	ORPHA:464311
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Dilated cardiomyopathy, Sparse eyebrow, Sparse eyelashes	OMIM:610768
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d...	ORPHA:3138
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:612530
Mosaic Trisomy 1	Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Congenital dia...	ORPHA:1692
Gaucher Disease, Type Iiic	Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati...	OMIM:231005
Congenital Heart Defects And Skeletal Malformations Syndrome	Camptodactyly, Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect	OMIM:617602
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Alopecia totalis, Anonychia, Absent fingernail	OMIM:609638
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Camptodactyly, Hypoplas...	OMIM:616894
Short-Rib Thoracic Dysplasia 12	Ascites, Patent foramen ovale, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosu...	OMIM:269860
Chops Syndrome	Patent foramen ovale, Patent ductus arteriosus, Anomalous pulmonary venous return, Ventricular se...	OMIM:616368
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ascites, Polyhydramnios, Ventricular septal defect	ORPHA:1655
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Holocarboxylase Synthetase Deficiency	Alopecia, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, Organic a...	OMIM:253270
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Cardiomegaly	OMIM:618886
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Palpebral edema, Mitral regurgitation, Ventricular...	OMIM:614866
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Limb hypertonia, Ventricular septal defect	OMIM:609460
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Mitral regurgitation,...	OMIM:608328
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis	OMIM:300918
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal T-wave, Mitral valve prolapse, Ventricular septal defect, Limb h...	ORPHA:444072
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Hydrops fetalis, Atrial septal defect, Ventricular septal defect	OMIM:263520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular...	OMIM:618278
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:268249
16P13.11 Microdeletion Syndrome	Atrial septal defect, Camptodactyly of finger, Ventricular septal defect	ORPHA:261236
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Oligohydramnios, Ventricular septal defect, Polyhydramnios...	ORPHA:141127
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Atrial septal defect, Heart murmur, Intracranial hemorrhage, Patent du...	ORPHA:163979
Mosaic Trisomy 16	Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:1708
Codas Syndrome	Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:600373
Biotinidase Deficiency	Alopecia, Organic aciduria, Hearing impairment, Limb muscle weakness, Sensorineural hearing impai...	ORPHA:79241
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Skeletal muscle atrophy, Abnormal skin adnexa ...	ORPHA:90289
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:600460
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Contracture of the proximal interphalangea...	ORPHA:464738
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Conductive hearing impairment, Hearing impairment, Sta...	ORPHA:51608
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	ORPHA:79345
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Alopecia, Abnormal fingernail morphology, Hypercalciuria, Hypermagnesiuria, Abn...	ORPHA:428
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Flexion contracture, Ventricular septal defect	OMIM:227645
Fanconi Anemia, Complementation Group N	Atrial septal defect, Ventricular septal defect	OMIM:610832
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Atr...	ORPHA:261330
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Pulmonary arter...	OMIM:618454
Teebi-Shaltout Syndrome	Aortic valve stenosis, Camptodactyly, Ventricular septal defect	OMIM:272950
3Mc Syndrome 1	Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Atrial septal defect, Pa...	OMIM:257920
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Juvenile Dermatomyositis	Alopecia, Cardiomyopathy, Myositis, Calcinosis, Pulmonary fibrosis, Pericarditis	ORPHA:93672
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect	OMIM:618748
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Hearing impairment, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Sparse hai...	OMIM:302960
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormal heart valve morphology, Situs inversus totalis, Ventricul...	ORPHA:289
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Feingold Syndrome 1	Ventricular septal defect, Polyhydramnios, Tricuspid stenosis, Patent ductus arteriosus, Tricuspi...	OMIM:164280
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Oligohydramnios, Ventricular septal defect, Camptodactyly, Atrial ...	OMIM:300373
Cerebellofaciodental Syndrome	Mitral valve prolapse, Ventricular septal defect	OMIM:616202
Colchicine Poisoning	Myocarditis, Alopecia, Oliguria, Renal insufficiency	ORPHA:31824
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Atrial septal ...	ORPHA:3047
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Oligohydramnios, Multiple joint contractures, Ventri...	ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ...	OMIM:617063
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
African Trypanosomiasis	Urinary incontinence, Alopecia, Hepatosplenomegaly, Renal insufficiency, Abnormality of circulati...	ORPHA:3385
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ven...	ORPHA:508498
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se...	ORPHA:466791
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Myhre Syndrome	Aortic valve stenosis, Skeletal muscle hypertrophy, Ventricular septal defect, Camptodactyly, Atr...	OMIM:139210
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de...	OMIM:142900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Small thenar eminence, Fa...	OMIM:607323
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F...	ORPHA:980
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2461
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:300712
Opitz Gbbb Syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular sep...	ORPHA:2745
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:620558
Trisomy 18	Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def...	ORPHA:3380
De Barsy Syndrome	Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect	ORPHA:2962
Specc1L-Related Hypertelorism Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defect, Patent ductus a...	ORPHA:1519
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Tall stature, Cardiomegaly, Bicuspid aortic valve, Pneumothorax	ORPHA:91387
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Camptodactyly of finger, Tr...	OMIM:143095
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Edema of the dorsu...	OMIM:274000
Diets-Jongmans Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Ventricular septal defect	OMIM:618846
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal ...	ORPHA:96121
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Oligohydram...	ORPHA:2729
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect	OMIM:616682
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Robinow Syndrome	Abnormal heart morphology, Ventricular septal defect, Pulmonary valve atresia, Atrial septal defe...	ORPHA:97360
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Cardiomegaly, Tinnitus, Telangiectasia of the oral mucosa, Thick vermilion bo...	ORPHA:79280
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Ventricular septal defect	ORPHA:436252
Mosaic Trisomy 20	Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septal defect	ORPHA:1724
Cerebrocostomandibular Syndrome	Elbow flexion contracture, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Paten...	OMIM:117650
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Tetralogy of Fallot, Abnormal pulmonary valve m...	ORPHA:567
Behcet Syndrome	Genital ulcers, Oral ulcer, Patchy alopecia, Epididymitis, Decreased level of D-mannose in urine	OMIM:109650
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Mitral regurgitation, Patent foramen ovale, Dysplastic tricus...	OMIM:157800
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect	OMIM:301030
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Oligohydramnios, Ventricular septal defect	OMIM:608670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Abnormal heart morphology, Oligohydramnios, Abnormal...	ORPHA:268261
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi...	OMIM:300166
Systemic Lupus Erythematosus	Alopecia, Oral ulcer, Hematuria, Proteinuria, Lupus nephritis, Cheilitis, Abnormal pigmentation o...	ORPHA:536
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormal heart morphology, Nonimmune hydrops fetalis, Ventric...	ORPHA:124
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal heart morphology, Atrioventricular canal defect, Oligohydra...	ORPHA:508488
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Jacobsen Syndrome	Flexion contracture, Atrial septal defect, Ventricular septal defect	OMIM:147791
Diamond-Blackfan Anemia 1	Congestive heart failure, Ventricular septal defect, Atrial septal defect, Small thenar eminence,...	OMIM:105650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle...	OMIM:271640
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Increased nuchal translucency, Congenital diaphragmatic hernia, Ve...	ORPHA:818
Chime Syndrome	Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se...	ORPHA:3474
Fryns Syndrome	Joint contracture of the hand, Chylothorax, Ventricular septal defect, Camptodactyly, Atrial sept...	OMIM:229850
Hardikar Syndrome	Portal hypertension, Patent foramen ovale, Ventricular septal defect, Hematemesis, Atrial septal ...	OMIM:301068
Esophageal Atresia	Tetralogy of Fallot, Polyhydramnios, Ventricular septal defect	ORPHA:1199
Pmm2-Cdg	Hypoalbuminemia, Failure to thrive, Multiple joint contractures, Reduced thyroxin-binding globuli...	ORPHA:79318
Arboleda-Tham Syndrome	Secundum atrial septal defect, Lower limb hypertonia, Upper eyelid edema, Ventricular septal defe...	OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Ventricular sep...	ORPHA:353281
Neu-Laxova Syndrome 1	Generalized edema, Joint contracture of the hand, Patent foramen ovale, Ventricular septal defect...	OMIM:256520
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Limb Body Wall Complex	Abnormal heart morphology, Diastasis recti, Congenital diaphragmatic hernia, Ventricular septal d...	ORPHA:2369
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Ventricular septal defect	OMIM:620568
Keutel Syndrome	Hypertension, Pulmonic stenosis, Ventricular septal defect	OMIM:245150
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Atrial septal defect, Flexion contracture, Paten...	OMIM:617140
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619268
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect	OMIM:616975
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Tetralogy of Fallot, Muscular ventricular septal defect, Elbow flex...	OMIM:210710
Jacobsen Syndrome	Aortic valve stenosis, Hypoplastic left heart, Ventricular septal defect	ORPHA:2308
Degcags Syndrome	Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, Pulmonary arterial h...	OMIM:619488
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, High anterior hairline, Carious teeth, Eruptio...	OMIM:182250
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Congenital diaphragmatic hernia, Patent ductus arteriosus, Ventricular septa...	OMIM:154400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal defect, Polyhydram...	ORPHA:459070
Chromosome 16P13.3 Duplication Syndrome	Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Atrial septal defect, Small the...	OMIM:613458
Trichotillomania	Alopecia	OMIM:613229
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Fetal ascites, Mitral atresia, Muscular ventricular septal defect, Elbow ...	OMIM:619503
Catel-Manzke Syndrome	Camptodactyly, Overriding aorta, Dextrocardia, Ventricular septal defect	OMIM:616145
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Abnormal heart morphology, Cardiac conduction abnormality, Patent foramen ...	ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Palpebral edema, Ventricular septal defect, Bicus...	OMIM:619475
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her...	OMIM:301044
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal de...	OMIM:309500
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613884
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Patent foramen ovale, Ventr...	OMIM:607872
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Penile Agenesis	Oligohydramnios, Atrial septal defect, Ventricular septal defect	ORPHA:49
Sympathetic Ophthalmia	Tinnitus, Alopecia, Poliosis, Hearing impairment	ORPHA:79098
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Femoral-Facial Syndrome	Camptodactyly of finger, Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus,...	OMIM:134780
Vater/Vacterl Association	Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Ventricular s...	OMIM:192350
Mowat-Wilson Syndrome	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Patent ductus arterio...	OMIM:235730
Alagille Syndrome 1	Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	OMIM:118450
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Charge Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Dysplastic tricusp...	OMIM:214800
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Williams-Beuren Syndrome	Coronary artery stenosis, Myxomatous mitral valve degeneration, Supravalvular aortic stenosis, Mi...	OMIM:194050
Johanson-Blizzard Syndrome	Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Situs inversus totalis, Portal hype...	OMIM:243800
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Partial atrioventricular canal defect, Patent foramen ovale, Ventricul...	OMIM:616462
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Genitopatellar Syndrome	Knee flexion contracture, Hip contracture, Ventricular septal defect, Atrial septal defect, Polyh...	OMIM:606170
Peters-Plus Syndrome	Diastasis recti, Ventricular septal defect, Atrial septal defect, Polyhydramnios, Patent ductus a...	OMIM:261540
Pallister-Hall Syndrome	Atrioventricular canal defect, Oligohydramnios, Ventricular septal defect, Distal arthrogryposis,...	ORPHA:672
Digeorge Syndrome	Tetralogy of Fallot, Truncus arteriosus, Patent ductus arteriosus, Ventricular septal defect	OMIM:188400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:619522
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Pulmonary a...	OMIM:216340
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ventricular septa...	OMIM:268300
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Tetralogy of Fallot, Hypoplasia of facial musculature, Patent ductus arteriosus, Ventricular sept...	OMIM:164210

Histopathology

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

There is no histopathology data for Sptbn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sptbn1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Loss of β2-spectrin prevents cardiomyocyte differentiation and heart development.	Cardiovascular research (September 2013)	Sptbn1^{tm1c(EUCOMM)Wtsi} Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC4229887
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.	Cell (July 2013)	Sptbn1^{tm1a(EUCOMM)Wtsi}	PMC3717207

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MGI Allele	Allele Type	Produced
Sptbn1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sptbn1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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