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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, elf1, beta fodrin, 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 total body fat amount	Sptbn1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.95×10^-05
decreased body weight	Sptbn1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.88×10^-06
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 (1507 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, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	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, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ...	ORPHA:50944
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Macroglossia,...	ORPHA:2221
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ileu...	ORPHA:83469
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup...	ORPHA:251636
Congenital Macroglossia	Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,...	ORPHA:902
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma	ORPHA:2023
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I...	ORPHA:206484
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Cowden Syndrome 1	Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,...	OMIM:158350
Zimmermann-Laband Syndrome	Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal external g...	ORPHA:3473
Fanconi Anemia, Complementation Group S	Macrodontia, Low anterior hairline, Dental malocclusion, Breast carcinoma, Ovarian neoplasm, Narr...	OMIM:617883
Muir-Torre Syndrome	Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ...	OMIM:158320
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Hypoplasia of the ear cartilage, Sarcoma	ORPHA:66661
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo...	ORPHA:314478
Familial Colorectal Cancer Type X	Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc...	ORPHA:440437
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ...	ORPHA:2591
Acquired Ichthyosis	Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Bazex Syndrome	Yellow nails, Lip hyperpigmentation, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Precocious pube...	ORPHA:370348
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy...	OMIM:618913
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Diastasis recti, Cardi...	OMIM:130650
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ...	ORPHA:180229
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov...	OMIM:614350
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi...	ORPHA:1359
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi...	ORPHA:65285
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Ovarian Fibroma	Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif...	ORPHA:314473
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi...	OMIM:613762
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Ollier Disease	Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H...	ORPHA:296
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr...	ORPHA:3000
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Absent fifth toenail, Thick v...	OMIM:614607
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Asbestos Intoxication	Atelectasis, Pleural thickening, Cor pulmonale, Myocardial fibrosis, Abnormal pulmonary interstit...	ORPHA:2302
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi...	OMIM:246700
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Abnormal fingernail morphology, Yellow nails, B...	ORPHA:662
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Lynch Syndrome 4	Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm	OMIM:614337
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Down Syndrome	Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Narrow mout...	ORPHA:870
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Overgrowth, Nephroblastoma, Enlarged kidney	OMIM:618272
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L...	ORPHA:116
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars...	ORPHA:2722
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Macrotia, Cardiomegaly	OMIM:300886
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Costello Syndrome	Low-set, posteriorly rotated ears, Deep-set nails, Ventricular septal defect, Abnormal fingernail...	ORPHA:3071
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Thick lower lip vermilion, Obesity, Bilateral sensorineural hearing impairment, Macroorchidism, M...	OMIM:300238
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilion border, Macro...	ORPHA:1193
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Legius Syndrome	Acute monocytic leukemia, Hearing impairment, Non-small cell lung carcinoma, Neurofibroma, Nephro...	ORPHA:137605
Rhabdoid Tumor	Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Neoplasm of the liver, Sarcoma	ORPHA:69077
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Paraneoplastic Pemphigus	B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Thymoma, Sarcoma	ORPHA:63455
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Lujan-Fryns Syndrome	Atrial septal defect, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Pro...	ORPHA:776
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ...	ORPHA:231632
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphom...	ORPHA:100025
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla...	OMIM:194080
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries...	ORPHA:284180
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypo...	ORPHA:2930
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Primary hyperc...	ORPHA:100079
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt...	ORPHA:85445
Sialuria	Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Synophrys, Low posterior h...	OMIM:269921
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma	ORPHA:626
Liposarcoma	Abnormality of the kidney, Sarcoma	ORPHA:69078
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap...	OMIM:175100
Alpha-Mannosidosis	Hepatomegaly, Recurrent respiratory infections, Open bite, Splenomegaly, Dental malocclusion, Gin...	ORPHA:61
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Hearing impairment, Splenomegaly, Senso...	OMIM:616354
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ...	ORPHA:562
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased m...	OMIM:500009
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus...	OMIM:613156
Zimmermann-Laband Syndrome 2	Thick eyebrow, Sensorineural hearing impairment, Synophrys, Widow's peak, Deep philtrum, Gingival...	OMIM:616455
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Thick lower...	OMIM:300354
Intellectual Developmental Disorder, X-Linked 21	Tented upper lip vermilion, Dental crowding, Uplifted earlobe, Synophrys, Macroorchidism, Open mouth	OMIM:300143
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Laryngeal carcinoma, Hypospadias, External genital hypoplasia,...	OMIM:610644
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Abnormal hair morphology, Protruding ear, Neoplasm of the skin, Abno...	ORPHA:317
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Flexion contracture, Orofacial cleft, High palate, ...	ORPHA:261290
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal mal...	ORPHA:3376
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Trisomy 20P	Low anterior hairline, Protruding ear, Downturned corners of mouth, Coarse hair, Short philtrum, ...	ORPHA:261318
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Gardner Syndrome	Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Central Precocious Puberty In Male	Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Overgrowt...	ORPHA:649929
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Carious teeth, Breast...	OMIM:614564
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Overfolded helix, Mi...	ORPHA:324410
Megalencephaly	Macroorchidism, Atrial septal defect, Long penis, Truncal obesity	ORPHA:2477
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Coffin-Siris Syndrome 3	Sparse scalp hair, Thick eyebrow, Hearing impairment, Central diaphragmatic hernia, Cleft palate,...	OMIM:614608
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Cleft palate, Low-set ears, Polycystic kidney dysplasia, A...	OMIM:613885
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Limb joint contracture, Abnormal pinna morphology, Ankle flexion contracture, Synophrys, Elbow fl...	ORPHA:280384
Autosomal Spastic Paraplegia Type 18	Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Sy...	ORPHA:209951
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair...	ORPHA:79474
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Low anterior hairline, Abnormal heart morphology, Down...	ORPHA:369891
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro...	ORPHA:139474
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Monosomy 22	Low-set, posteriorly rotated ears, Aplasia of the thymus, Open mouth, Schwannoma, Synophrys, Hepa...	ORPHA:96123
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych...	OMIM:224750
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr...	ORPHA:3363
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Deep philtrum, Recurrent pneumonia, Hepatosplenomegaly, High palate, Lo...	OMIM:619750
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,...	OMIM:608022
Kleefstra Syndrome 1	U-Shaped upper lip vermilion, Natal tooth, Recurrent respiratory infections, Hypospadias, Abnorma...	OMIM:610253
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Low anterior hairline, Elbow flexion ...	OMIM:618440
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Macrovesicular hepatic steato...	OMIM:617303
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, ...	ORPHA:2584
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo...	ORPHA:1008
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog...	ORPHA:158057
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Macrotia, Everted lower lip vermilion, Obesity	ORPHA:85286
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl...	OMIM:608836
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, High, narrow palate, ...	ORPHA:373
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Dilated cardiomyopathy, Macroglossia, Calf muscle hypertrophy, Muscular ...	OMIM:616827
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Fragile X Syndrome	Macroorchidism, postpubertal, Macrotia, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Rabson-Mendenhall Syndrome	Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying o...	ORPHA:769
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great...	OMIM:616789
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Renal cyst, Do...	ORPHA:261494
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As...	OMIM:615415
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Crandall Syndrome	Alopecia, Hypoplasia of penis, Brittle hair, Sensorineural hearing impairment, Fine hair, Hypogon...	ORPHA:202
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp...	ORPHA:480536
Alg6-Cdg	Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Macrogloss...	ORPHA:79320
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft upper lip, Medulloblastom...	OMIM:109400
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Hypothyroidism	ORPHA:2349
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Sparse eyelashes, Hypospadias, Sparse eyebrow, Mitral valve prolapse, B...	OMIM:618874
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Highly arched eyebrow, Protruding tongue, Cryptorchidis...	ORPHA:96147
Familial Adenomatous Polyposis	Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Palmoplantar Carcinoma, Multiple Self-Healing	Long philtrum, Carcinoma, Nail dystrophy, Squamous cell carcinoma	OMIM:615225
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Congenital Disorder Of Deglycosylation 2	Hamartoma of tongue, Highly arched eyebrow, Macroglossia, Microtia, High palate, Hypothalamic ham...	OMIM:619775
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, M...	OMIM:300055
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ...	ORPHA:79405
Desmoid Tumor	Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti...	ORPHA:873
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Open ...	OMIM:309520
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Abnormal semicir...	ORPHA:87
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
H Syndrome	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormality of the kidney, Cleft upper ...	ORPHA:168569
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul...	OMIM:616050
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia, Premature loss of teeth	OMIM:114580
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Neoplasm of th...	ORPHA:744
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Brain neoplasm, Tented upper lip vermilion, Decreased response to growth...	ORPHA:273
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,...	OMIM:616052
Crouzon Syndrome	Dental crowding, High palate, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:123500
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Accessory oral frenulum, Flexion contracture, Hypoplasia of teeth, Inclusion body fibro...	ORPHA:88630
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hypoalbuminemia	OMIM:618805
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgene...	OMIM:214100
Tuberous Sclerosis 2	Astrocytoma, Angiofibromas, Subependymal giant-cell astrocytoma, Renal cyst, Subependymal nodules...	OMIM:613254
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, C...	OMIM:267000
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Terminal Osseous Dysplasia	Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Cleft palate, Thic...	OMIM:300244
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona...	ORPHA:860
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Alopecia, Recurrent urinary tract infections, Lymphoproliferative disorder, Elevate...	OMIM:615559
Tuberous Sclerosis 1	Chordoma, Dental enamel pits, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis,...	OMIM:191100
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Premature loss of teeth, ...	OMIM:618373
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Schinzel-Giedion Syndrome	Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High palate, Hepa...	ORPHA:798
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Atrial septal defect, Small scrotum, Hypospadias, Hyperconvex nail, Uret...	OMIM:269150
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Sézary Syndrome	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Abnormal pleura morph...	ORPHA:3162
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma t...	ORPHA:221
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Multiple lipomas, Microtia, Overgrowth, Nephroblastoma, Ovarian serous cystaden...	ORPHA:276280
Fragile X Syndrome	Macroorchidism, Protruding ear, Mitral valve prolapse	ORPHA:908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Alg9-Cdg	Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Abnorma...	ORPHA:79328
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate	OMIM:600331
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se...	ORPHA:95716
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Hypoplasia of th...	OMIM:200995
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Ventricular Septal Defect 3	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Alg3-Cdg	Abnormal pinna morphology, Abnormality of the endocrine system, Cardiomyopathy, Macroglossia, Hig...	ORPHA:79321
Familial Melanoma	Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o...	ORPHA:618
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Abnormality ...	ORPHA:79406
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia	OMIM:256300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy...	ORPHA:85443
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp...	ORPHA:454840
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Macrodontia, Diabe...	ORPHA:3242
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Atrial septal defect, Hepato...	OMIM:312870
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Squamous cell carcinom...	ORPHA:79411
Dyskeratosis Congenita, X-Linked	Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ...	OMIM:305000
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Large for gestational age, Sensorineural hearing im...	OMIM:617107
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis...	OMIM:614450
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys...	OMIM:613091
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Dyskeratosis Congenita	White hair, Premature graying of hair, Neoplasm, Periodontitis, Sparse hair, Hepatomegaly, Alopec...	ORPHA:1775
Exostoses, Multiple, Type Ii	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133700
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Posteriorly rotated ears, Wide mouth, Macroglossia, Disproportionate t...	OMIM:615668
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Mulibrey Nanism	Hepatomegaly, Dental crowding, Cardiomegaly, Microglossia, Myocardial fibrosis, Dental malocclusi...	OMIM:253250
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Rothmund-Thomson Syndrome, Type 2	Squamous cell carcinoma, Premature graying of hair, Anteriorly placed anus, High palate, Sparse h...	OMIM:268400
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ...	OMIM:618268
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Selective tooth agenesis, Neoplasm, Decreased serum estradiol, Micro...	ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Sparse eyelashes, Sparse eyebrow, Pulmonary fibr...	OMIM:615704
Thyroid Hemiagenesis	Thyroid agenesis, Macroglossia, Jaundice	ORPHA:95719
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Capillary hemangioma, Microdontia, Pro...	OMIM:619194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Macroglossia, Cardiomyopathy, Calf muscle hypertrophy, Muscula...	OMIM:613155
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal...	ORPHA:354
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Highly arched eyebrow, Cardi...	OMIM:618143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop...	ORPHA:2126
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Abnormal pinna morphology, Pulmonary artery st...	ORPHA:75389
Anauxetic Dysplasia 2	Flexion contracture, Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair	OMIM:617396
Partington Syndrome	Macroorchidism	ORPHA:94083
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational...	ORPHA:500095
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity	ORPHA:3077
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Hepatic steatosis, Alopecia, Increased circulating cortisol level, Hyperal...	ORPHA:189427
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Porphyria Cutanea Tarda	Alopecia, Porphyrinuria, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis	OMIM:176100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr...	OMIM:309900
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Oncogenic Osteomalacia	Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc...	ORPHA:352540
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ...	OMIM:602540
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa...	OMIM:145001
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Cryptorchidism, Rena...	ORPHA:85284
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Abnormal dental morphology, Camptodactyly of finger, Protruding ear, Everted lower lip ...	ORPHA:2251
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormal lung morphology, Hep...	ORPHA:464329
Nicolaides-Baraitser Syndrome	Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, High, na...	ORPHA:3051
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Basal cell carcinoma, Squamou...	OMIM:620040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi...	OMIM:619950
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss...	OMIM:617022
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Facial hypertrichosis, Dental crowding, Sensorineural hearing impairment, Deep philtrum, Hepatosp...	ORPHA:397709
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Thick l...	OMIM:252940
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplas...	ORPHA:3055
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Liver abscess, Abnormal fingernail morphology, Severe periodont...	ORPHA:678
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Esophageal stricture, Flexio...	OMIM:226600
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia	OMIM:188150
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gastrointestinal Stromal Tumor	Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla...	ORPHA:44890
Immunodeficiency 27A	Hypoalbuminemia, Weight loss	OMIM:209950
Muir-Torre Syndrome	Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla...	ORPHA:587
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Peutz-Jeghers Syndrome	Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach ca...	ORPHA:2869
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal ...	ORPHA:2325
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis...	OMIM:266920
Neurofibromatosis Type 1	Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Abnormal...	ORPHA:636
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Costello Syndrome	High palate, Sparse hair, Atrial septal defect, Deep-set nails, Thin nail, Concave nail, Vestibul...	OMIM:218040
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	U-Shaped upper lip vermilion, Hypospadias, Ventricular septal defect, Posteriorly rotated ears, P...	OMIM:301040
Milroy Disease	Hydrocele testis, Neoplasm of the skin, Toenail dysplasia, Angiosarcoma	ORPHA:79452
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca...	OMIM:190685
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Hepatic fibrosis, Sparse hair, Alopecia, Hamartoma of to...	OMIM:311200
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilater...	ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral refl...	ORPHA:453499
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Thick eyebrow, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate ex...	OMIM:253220
Pontocerebellar Hypoplasia, Type 9	Short upper lip, Macroglossia, Facial hypotonia, Abnormal pinna morphology	OMIM:615809
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:99880
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Myelodysplasia, Carious teeth, Nail pits, Hepatic necrosis, Premature gray...	OMIM:127550
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Sensorineural he...	OMIM:193300
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog...	ORPHA:1332
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Hypoplastic toenails, Asplenia, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Macrotia, Spars...	ORPHA:2850
Leprechaunism	Skeletal muscle atrophy, Rectal prolapse, Protruding ear, Nephrocalcinosis, Increased circulating...	ORPHA:508
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Prematu...	OMIM:112250
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Intellectual Developmental Disorder, Autosomal Recessive 30	Macroglossia	OMIM:614342
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Diastasis recti, Recurrent bronchitis, Cardiomegaly, Sparse eyebrow, ...	OMIM:252500
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Downturne...	ORPHA:444077
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Pancreatic Cancer	Neoplasm of the pancreas, Increased level of L-fucose in urine	OMIM:260350
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce...	ORPHA:143
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2070
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Athyreosis	Thyroid agenesis, Macroglossia, Hypothyroidism	ORPHA:95713
Familial Atrial Myxoma	Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr...	OMIM:608978
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Synophrys, Protruding ear, Sparse hair, Dystrophic fingernails, Anodontia, Alopeci...	ORPHA:3253
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Squamous cell car...	ORPHA:79409
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphocytoma cutis, Sterile...	ORPHA:449395
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Posteriorly rotated ears, Left atrial enl...	OMIM:300280
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Camptodactyly	OMIM:608104
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Intellectual Developmental Disorder, Autosomal Dominant 1	Thin upper lip vermilion, Highly arched eyebrow, Open mouth, Cupped ear, Protruding ear, Low post...	OMIM:156200
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l...	ORPHA:33001
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios	ORPHA:3405
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o...	OMIM:219080
Refractory Celiac Disease	Hypophosphatemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:398063
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Lymphoma, Thyroiditis, Nephrotic syndrome, Hypot...	ORPHA:39041
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Gingivitis, Tubu...	OMIM:203800
Endocrine-Cerebroosteodysplasia	Natal tooth, Small scrotum, Hypospadias, Bilateral cleft lip, Median cleft lip, Adrenal hypoplasi...	OMIM:612651
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607014
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar...	ORPHA:1018
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Elevated circulating a...	ORPHA:308552
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Gingival overgrowth, Tracheoesophageal fistula, Fine ...	ORPHA:1839
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Low anterior hairline, Gingival ove...	OMIM:248500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo...	OMIM:240300
Immunodeficiency 32B	Failure to thrive, Hypoalbuminemia	OMIM:226990
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Leishmaniasis	Hypoalbuminemia, Weight loss	ORPHA:507
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Tented upper lip vermilion, Exaggerated cupid's bow, Highly arched eyebrow, Fetal pyelectasis, Gi...	OMIM:616900
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy...	ORPHA:90674
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Dental crowding, Delayed eruption...	OMIM:616367
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp...	ORPHA:79259
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Thickened helice...	ORPHA:581
Acromegaly	Dysmenorrhea, Synophrys, Wide penis, Widely spaced teeth, Pituitary prolactin cell adenoma, Abnor...	ORPHA:963
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g...	OMIM:175200
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Dental crowding, Bronchiectasis, Macroglossia, Joint contractur...	OMIM:618523
L-Ferritin Deficiency	Alopecia	OMIM:615604
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Thick eyebrow, Tented upper lip vermilion, Ventricular septal defect, De...	ORPHA:488632
Transaldolase Deficiency	Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Atrial septal defect	ORPHA:101028
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Wild Type Abeta2M Amyloidosis	Intestinal pseudo-obstruction, Abnormal tendon morphology, Macroglossia, Abnormal intestine morph...	ORPHA:85446
Somatomammotropinoma	Dysmenorrhea, Synophrys, Widely spaced teeth, Pituitary prolactin cell adenoma, Abnormal toenail ...	ORPHA:314769
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ma...	OMIM:268800
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Tooth agenesis, M...	ORPHA:1798
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Urinary glycosaminoglycan ...	ORPHA:79255
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cortisone Reductase Deficiency 1	Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Alopecia, Hypospadias, Dextrocardia, Abnormal hai...	ORPHA:2315
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Macroglossia	Macroglossia	OMIM:153630
Moynahan Syndrome	Alopecia, Sensorineural hearing impairment, Hypogonadism, Sparse hair	ORPHA:2574
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downtu...	ORPHA:352665
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma...	OMIM:616415
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricular septal defect, Bilateral cr...	OMIM:613457
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased thyroid-stimulating hormone level, Macroglossia, Hypothyroidism, Decreased circulating ...	OMIM:275100
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Anal canal squamous carcinoma, Squamous cell carcino...	ORPHA:217390
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Thick hair, Heparan sulfate excretion in urine, Fl...	ORPHA:505248
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Alopecia, Astrocytoma, Ventricular septal defect, Peripheral pulmonary arte...	OMIM:613001
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Pneumonia, Cryptorchidis...	ORPHA:1867
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric...	OMIM:618901
Kerion Celsi	Alopecia	ORPHA:499
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ...	ORPHA:447877
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	U-Shaped upper lip vermilion, Hypoplasia of penis, Ambiguous genitalia, Tented upper lip vermilio...	ORPHA:847
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Edema, Pulmonary embolism, Congestive heart failure, Patent ductus a...	ORPHA:90308
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Onycholysis, Abnormal intestine morphology, ...	ORPHA:525
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Stomatitis, Chole...	ORPHA:438274
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopathy, Macroglossia...	OMIM:607155
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Posteriorly rotated ears, Hypospadias, Supernumerary nipple, Abnormality of the dentiti...	ORPHA:3224
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Gingival overgrowth, Ascites, Nephrotic syndrome, High ...	OMIM:269920
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C...	ORPHA:2890
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterin...	ORPHA:1439
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ...	OMIM:230000
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Limb joint contracture, Hypogonadotropic hypogonadism, Carious...	OMIM:612079
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Emphysema,...	ORPHA:363618
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Sotos Syndrome	Ureteral duplication, Astrocytoma, No permanent dentition, Flexion contracture, Neoplasm, Conduct...	ORPHA:821
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal heart valve morphology, Camptodactyly of...	ORPHA:93473
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa...	OMIM:232500
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin...	OMIM:168000
X-Linked Agammaglobulinemia	Alopecia, Malabsorption, Sensorineural hearing impairment, Abnormal lung morphology, Recurrent pn...	ORPHA:47
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Turcot Syndrome With Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi...	ORPHA:99818
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Limb-girdle muscle weakness, Hypothyroidism, Rhabdomyolysis, Macroglossi...	OMIM:251900
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Transposition of t...	OMIM:314390
Fibrodysplasia Ossificans Progressiva	Alopecia, Sensorineural hearing impairment, Widely spaced teeth, Conductive hearing impairment, H...	OMIM:135100
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h...	OMIM:269200
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Ba...	ORPHA:79410
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Alopecia, Fair hair, External genital hypoplas...	ORPHA:79330
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, External ear malformat...	ORPHA:1647
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased variability in muscle fiber ...	OMIM:618654
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Facial palsy, Absent eyelashes, Carious teeth, Cleft palate, Protruding...	ORPHA:2316
Gapo Syndrome	Delayed eruption of teeth, Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early baldin...	ORPHA:2067
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail...	OMIM:610965
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, Tented upper lip vermilion, High palate	OMIM:616025
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Alg8-Cdg	Elevated hepatic transaminase, Macroglossia, Low-set ears, Camptodactyly, Ascites	ORPHA:79325
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Splenomegaly,...	OMIM:232300
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Sensorineural hearing impairment, Cleft palate, Abnormal...	ORPHA:494
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Tuberous Sclerosis Complex	Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc...	ORPHA:805
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Cardiomegaly, Sparse hair, Enamel hypoplasia, Macrotia	OMIM:613576
Vitamin K Antagonist Embryofetopathy	Macroglossia, Microtia, Hearing impairment	ORPHA:1914
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Orofaciodigital Syndrome Type 1	Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Multicystic kidn...	ORPHA:2750
Retinoblastoma	Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent...	OMIM:612841
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, External genital hypoplasia, Large for gestational age, Deep philtrum...	ORPHA:96334
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Elevated urina...	OMIM:115310
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia	OMIM:600273
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Clitoral hypoplasia, Micropenis, R...	OMIM:268310
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c...	OMIM:232200
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb...	ORPHA:247353
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Flexion contracture, Failure to thrive, Hypoalbuminemia	ORPHA:367
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Hypoalbuminemia	OMIM:617021
Distal 22Q11.2 Microduplication Syndrome	Anal atresia, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Hypo...	ORPHA:261337
Necrobiosis Lipoidica	Abnormality of the thyroid gland, Diabetes mellitus, Squamous cell carcinoma	ORPHA:542592
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Steatocystoma multiplex, Paronychia, Onychogryposis of ...	ORPHA:2309
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Abnormality of dental color, Hyperphosphaturia, Precocious puberty, Horseshoe kidney, B...	OMIM:163200
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Pulsatile tinnitus, Chemodectoma, Adrenal pheochromocytoma, Glomus...	OMIM:605373
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Flexion contracture, Triangul...	OMIM:601675
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Underdeveloped superior crus of antihelix, A...	ORPHA:369950
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia	ORPHA:309288
Lethal Recessive Chondrodysplasia	Macroglossia	ORPHA:1423
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Narrow mouth, Flexion contracture, Cheilitis, Abnormal ora...	ORPHA:357154
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morphology, Nephritis, E...	ORPHA:2298
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Recurrent upper respira...	ORPHA:583
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c...	OMIM:278760
Hypothyroidism Due To Tsh Receptor Mutations	Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration...	ORPHA:90673
Rothmund-Thomson Syndrome Type 1	Squamous cell carcinoma, Sparse hair, Microdontia, Hypothyroidism, Calcinosis, Premature ovarian ...	ORPHA:221008
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Rapp-Hodgkin Syndrome	Conical tooth, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip, Sparse eyebro...	OMIM:129400
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe...	OMIM:613573
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Flynn-Aird Syndrome	Carious teeth, Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp	OMIM:136300
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Impotence, Xerostomia	ORPHA:43393
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Tenorio Syndrome	Recurrent pneumonia, Wide mouth, Macroglossia, Enuresis, Recurrent aphthous stomatitis, Hypoinsul...	OMIM:616260
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang...	ORPHA:653
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren...	OMIM:252920
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios	ORPHA:139466
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Sensorineural hearing impairment, Myopathy, Microtia, Everted lower lip v...	OMIM:275630
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con...	OMIM:148210
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Hypoplastic toenails, Rectal prolapse, ...	ORPHA:904
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Low-set ears, Splenic cyst, Enlarge...	OMIM:618188
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Malabsorption, Protruding tongue, Bronchiectasis, Macroglossia, Low-set ears, Chronic ...	OMIM:242860
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Joubert Syndrome 1	Highly arched eyebrow, Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Low-set ear...	OMIM:213300
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Rothmund-Thomson Syndrome	Selective tooth agenesis, Squamous cell carcinoma, Microdontia, Sparse hair, Abnormality of the n...	ORPHA:2909
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Cupped ear, Protruding ear, Macroglossia, Nail dystrophy, Atrial septal d...	ORPHA:93947
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased circulating carni...	ORPHA:89842
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, Eleva...	OMIM:162300
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abnormal p...	ORPHA:400
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Primary Intestinal Lymphangiectasia	Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Protruding ear, Macroglossia, Abnormal antihelix morphology, Everted ...	ORPHA:261144
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino...	ORPHA:790
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the...	OMIM:129500
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Primary...	ORPHA:227990
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Decreased body weight	ORPHA:1667
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc...	ORPHA:251004
Aicardi Syndrome	Cleft upper lip, Precocious puberty, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cle...	OMIM:304050
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi...	ORPHA:227982
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Large fles...	OMIM:203550
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, ...	ORPHA:228390
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Papilloma, Abnormality of the nail, Alope...	ORPHA:2092
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Ventricular septal defect, Absent eyelashes, Cryptorchidism, Abnormalit...	ORPHA:166035
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Paronychia, Renal cyst, Squamous cell carcin...	ORPHA:79404
Rothmund-Thomson Syndrome Type 2	Squamous cell carcinoma, High palate, Sparse hair, Microdontia, Calcinosis, Abnormal dental ename...	ORPHA:221016
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Elevated circulating thyroid-stimulat...	OMIM:256040
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni...	OMIM:611812
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Oral mucosal blisters, Abnormality of the dentition, Nail dystrophy, Nail dysplasia	ORPHA:79397
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, High palate	ORPHA:50812
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension	OMIM:616589
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ...	ORPHA:90791
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites, Hearing impairment	ORPHA:858
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Kury-Isidor Syndrome	Alopecia, Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth...	OMIM:619762
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi...	ORPHA:1882
Ane Syndrome	Decreased serum testosterone concentration, Alopecia, Multiple joint contractures, Hypogonadotrop...	ORPHA:157954
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Subpleural i...	ORPHA:79128
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Abnormality of the dentit...	ORPHA:93
Ring Chromosome 13 Syndrome	Bifid scrotum, Anal atresia, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Posteriorly ro...	ORPHA:96176
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl...	OMIM:162200
Angelman Syndrome	Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair	OMIM:105830
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Pleural effusion...	ORPHA:69735
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Micropenis, Hypospadias	OMIM:618840
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h...	OMIM:180700
Coffin-Siris Syndrome 4	Sparse scalp hair, Everted upper lip vermilion, Thin upper lip vermilion, Ventricular septal defe...	OMIM:614609
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Nail dy...	OMIM:175500
Familial Adenomatous Polyposis 4	Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cys...	OMIM:617100
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Monosomy 18P	Alopecia, Carious teeth, Cleft palate, Low posterior hairline, Protruding ear, Abnormal antihelix...	ORPHA:1598
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Carney Triad	Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang...	ORPHA:139411
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas...	ORPHA:84064
Fibrodysplasia Ossificans Progressiva	Alopecia, Hearing impairment	ORPHA:337
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Facial hypotonia, Nephroblas...	ORPHA:97297
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pulmonic stenosis, Camp...	OMIM:179613
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Flexion contract...	OMIM:253200
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Cleft palate	OMIM:164180
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Small for gestational age, Elevated circulating creatine kina...	OMIM:619055
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Cholangioc...	ORPHA:465508
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease...	ORPHA:453533
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Macroglossia, High palate, Long eyelashes, Low-set ears, Narrow mouth, ...	ORPHA:357001
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia, ...	ORPHA:185
Fanconi Anemia, Complementation Group P	Cryptorchidism, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Hearing impairment	OMIM:613951
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Re...	ORPHA:365
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Celiac disease, Primary adrenal i...	ORPHA:3143
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Hypospadias, Supernumerary nipple, Sparse eyelashes, Absent eyelashes,...	OMIM:106260
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate,...	OMIM:309580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hyperbi...	OMIM:251880
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Sensorineural hearing impairment, Micronod...	ORPHA:98907
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab...	ORPHA:1507
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Cryptorchidism, Protruding ear, Patchy alopecia, High palate, Decreased ...	ORPHA:85279
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypoalbuminemia, Hypernatremia	OMIM:615508
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Smooth philtrum, Thin upper lip vermilion, Recurrent respiratory in...	OMIM:300534
Lymphangioleiomyomatosis	Renal neoplasm, Abnormal urinary color, Recurrent respiratory infections, Retinal hamartoma, Rena...	ORPHA:538
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co...	OMIM:615830
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash...	OMIM:137940
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Tall stature, Hearing impairment, Neurofibroma, Abnormal heart morphology, Overgrowth, Plexiform ...	OMIM:613675
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio...	OMIM:617156
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Flexion contractu...	OMIM:616897
Benign Schwannoma	Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib...	ORPHA:252164
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid...	ORPHA:2108
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn...	ORPHA:3107
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Atrial septal defect, H...	ORPHA:1465
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Microtia, Patchy alopec...	OMIM:141300
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:263630
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Macs Syndrome	Eclabion, Irregular dentition, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorc...	OMIM:613075
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Björnstad Syndrome	Alopecia, Sensorineural hearing impairment, Brittle hair, Hypogonadism	ORPHA:123
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia...	OMIM:614096
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo...	ORPHA:97278
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes	OMIM:619064
Bloom Syndrome	Decreased fertility in females, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infec...	OMIM:210900
Cantu Syndrome	Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Large for gestational...	OMIM:239850
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia	OMIM:618329
Gomez-Lopez-Hernandez Syndrome	Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Thin v...	OMIM:601853
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric...	ORPHA:97214
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E...	ORPHA:276621
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Hypocholeste...	OMIM:212065
49,Xxxyy Syndrome	Low-set, posteriorly rotated ears, Decreased serum testosterone concentration, External genital h...	ORPHA:261534
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Tall stature, Intestinal polyposis, Abno...	ORPHA:109
Icf Syndrome	Recurrent respiratory infections, Malabsorption, Protruding tongue, Macroglossia, Low-set ears	ORPHA:2268
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Celiac disease, Lymphoma, Thyroiditis, Type I diabetes m...	OMIM:212750
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Sensorineural hearing impairment, Orofacial cleft	ORPHA:79107
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Carious teeth, Abnormality of the thyroid gland, Primary adren...	ORPHA:2047
Satoyoshi Syndrome	Alopecia, Malabsorption, Hypoplasia of the uterus, Skeletal muscle hypertrophy, Alopecia universa...	OMIM:600705
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial septal defect, Trunc...	OMIM:617478
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Oral mucosal blisters, Smooth tongue, Squamous cell carci...	ORPHA:79396
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, High, narrow palate, Thic...	OMIM:230740
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu...	ORPHA:42
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Camptodactyly of finger, Premature loss of primary teeth, Abnor...	ORPHA:2907
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Recurrent urinary tract infections, Facial hypotonia, Pneumonia, Highly...	ORPHA:309282
Melkersson-Rosenthal Syndrome	Facial palsy, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia	ORPHA:2483
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Bloom Syndrome	Bronchitis, Paronychia, Neoplasm, Neoplasm of the breast, Stomach cancer, Male infertility, Prema...	ORPHA:125
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia	OMIM:617729
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria	OMIM:171420
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Abnormal adipose tissue morphology, Camptodactyly, Failure to thri...	ORPHA:79324
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Gingival overgrowth, Macroglossia, Abnormal urinary odor, Difficult...	ORPHA:412217
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hypoalbuminemia, Weight loss	OMIM:619487
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Cryptorchidism, Urethral stenosis, Fine hair, Premature graying of ...	OMIM:613990
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Weight loss	ORPHA:67
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart	OMIM:618142
Woods Syndrome	Ventricular septal defect	OMIM:615236
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsati...	ORPHA:29072
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal ...	OMIM:619472
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Hyperconvex fin...	ORPHA:881
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum, Cavernous hemangioma	ORPHA:2612
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Small ...	OMIM:181270
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co...	ORPHA:36234
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Protruding ear, High palate, Proportionate tall stature, Atrial septal defect, Abnormal dental pu...	ORPHA:363700
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypergonad...	OMIM:241080
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Primary adrenal insufficiency, Impotence, Hypogonadism, Urinary b...	OMIM:300100
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Distal amyotrophy, Hypogonadism, Oligomenorrhea, Infertility, Type II diabetes mellitus...	ORPHA:412057
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Adams-Oliver Syndrome	Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ...	ORPHA:974
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Sensorineural hearing impairment, Flexion contracture, Cleft palate	OMIM:215100
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia	OMIM:212360
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Atelectasis, Flexion cont...	ORPHA:258
Meige Disease	Angiosarcoma, Pleural effusion	ORPHA:90186
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Flexion con...	OMIM:608149
Congenital Enterovirus Infection	Hypoalbuminemia, Hyperammonemia	ORPHA:292
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, I...	OMIM:618870
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Hypomelanosis Of Ito	Alopecia, Thick lower lip vermilion, Irregularly spaced teeth	OMIM:300337
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dent...	ORPHA:217085
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca...	ORPHA:37042
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Bilater...	ORPHA:544488
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Cleft pal...	ORPHA:158687
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, P...	ORPHA:26793
Mucopolysaccharidosis Type 2	Hepatomegaly, Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology,...	ORPHA:580
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect	OMIM:616651
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio...	OMIM:603387
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Open ...	ORPHA:254528
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal dent...	ORPHA:217093
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventricular septal defect	OMIM:613730
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Abnormal small intestine...	ORPHA:90291
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent pneumon...	OMIM:243700
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Micropenis, Patent foramen ovale, ...	OMIM:263650
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting	OMIM:201910
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Galloway-Mowat Syndrome 1	Small for gestational age, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contracture of th...	OMIM:251300
Satoyoshi Syndrome	Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs...	ORPHA:3130
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Thick lower lip vermilion...	OMIM:208400
Prune Belly Syndrome	Ventricular septal defect, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, A...	ORPHA:2970
Xeroderma Pigmentosum	Alopecia, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing impairment, Melanom...	ORPHA:910
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen...	OMIM:616564
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale, Furrowed tongu...	OMIM:158310
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the dentition, Abnormality of t...	ORPHA:349
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Hypoplastic toenails, High, narrow palate, Abnormality of the gi...	ORPHA:2753
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha...	OMIM:262000
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Patent...	OMIM:606003
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, ...	OMIM:201475
Congenital Rubella Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:290
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios	ORPHA:1923
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Pheochromocytoma	Proteinuria, Elevated urinary norepinephrine level, Neoplasm, Pheochromocytoma, Renal artery sten...	OMIM:171300
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97280
49,Xyyyy Syndrome	Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, L...	ORPHA:99330
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly	OMIM:301039
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia	OMIM:619909
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Abnormality of the kidney, Abnormality of canine, Early balding, Adenomatous ...	ORPHA:261584
Mixed Connective Tissue Disease	Hepatomegaly, Pericarditis, Alopecia, Myositis, Gastritis, Splenomegaly, Myocarditis, Xerostomia,...	ORPHA:809
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Tall stature, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar musc...	ORPHA:2463
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Protruding ear, Small nail, Low-set ears, Limb hypertonia	OMIM:614219
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis...	OMIM:222470
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t...	ORPHA:3464
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Abnormality of the dentition, Recurrent pneumonia, Br...	OMIM:618282
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor...	ORPHA:573
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Thick vermilion border, Hearing impairment	ORPHA:3137
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, ...	ORPHA:79500
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Pallister-Killian Syndrome	Small scrotum, Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, ...	OMIM:601803
Bartsocas-Papas Syndrome	Median cleft lip, Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Narrow mouth,...	ORPHA:1234
Contractural Arachnodactyly, Congenital	Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Elbo...	OMIM:121050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly	OMIM:235510
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Macroglossia, High palate	OMIM:619876
Anauxetic Dysplasia 1	Hip contracture, Elbow flexion contracture, Macroglossia, Hypodontia, Microdontia, Aortic valve s...	OMIM:607095
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Elevated circulating parathy...	ORPHA:97685
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:610338
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Increased n...	OMIM:605275
Giant Cell Arteritis	Glossitis, Alopecia, Pericarditis, Diabetes insipidus, Renal insufficiency, Abnormal pleura morph...	ORPHA:397
Pediatric Systemic Lupus Erythematosus	Dark urine, Alopecia, Myositis, Renal insufficiency, Proteinuria, Pericardial effusion, Oral ulce...	ORPHA:93552
Jansen-De Vries Syndrome	Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve	OMIM:617450
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morph...	ORPHA:464
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Card...	OMIM:617713
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Joubert Syndrome 18	Ventricular septal defect, Camptodactyly	OMIM:614815
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Arthrogryposis mul...	OMIM:208085
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Loss of eyelashes,...	OMIM:263700
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypoplasia, Downt...	OMIM:619321
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Multiple joint contractures, Ventricular septal defect, Fronta...	ORPHA:506
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ...	OMIM:619170
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Systemic Lupus Erythematosus 17	Alopecia, Oral ulcer	OMIM:301080
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior...	OMIM:616843
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial septal defect...	OMIM:618316
Emanuel Syndrome	Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Pate...	OMIM:609029
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Insulin-resistant diabetes mellitus, Flexion contracture...	OMIM:608612
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai...	ORPHA:2269
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr...	OMIM:612843
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve...	OMIM:619657
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Hypoplasia of the thymus	OMIM:603554
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol...	ORPHA:99931
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Trichothiodystrophy	Ridged nail, Brittle hair, Multiple joint contractures, High, narrow palate, Squamous cell carcin...	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture,...	OMIM:613150
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Ventricular septal defect, Sensorine...	ORPHA:96129
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the dentition, Nep...	ORPHA:93160
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Pyloric s...	OMIM:615577
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Hyper-Igd Syndrome	Splenomegaly, Oral ulcer, Hepatosplenomegaly, Renal angiomyolipoma, Elevated urine mevalonic acid...	OMIM:260920
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Stomatitis, Proteinuria, Hepatocellular carcinoma, Chronic pan...	OMIM:232240
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Noonan Syndrome 1	Male infertility, Juvenile myelomonocytic leukemia, Atrial septal defect, Hypospadias, Ventricula...	OMIM:163950
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Juvenile Polyposis Of Infancy	Subcutaneous lipoma, Hypoalbuminemia, Cachexia	ORPHA:79076
Incontinentia Pigmenti	Ridged nail, Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Nail pits,...	OMIM:308300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Abnormal antiheli...	ORPHA:1005
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Alopecia, Atrophic gastritis, Recurrent pneumonia, Bronchiect...	OMIM:616576
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing ent...	OMIM:619991
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:613680
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi...	ORPHA:129
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Stickler Syndrome	Skeletal muscle atrophy, Recurrent respiratory infections, Abnormal dental enamel morphology, Cle...	ORPHA:828
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Splenomegaly, Hepatic failure, Hepatospl...	OMIM:608013
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Squamous cell carcinoma, Urinary bladder sphincter dysfu...	ORPHA:79408
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis...	OMIM:103900
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Rajab Interstitial Lung Disease With Brain Calcifications 1	Inguinal hernia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbili...	OMIM:613658
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level, Congenital a...	ORPHA:96181
Chromomycosis	Abnormal lung morphology, Multiple cutaneous malignancies, Abnormal oral cavity morphology, Squam...	ORPHA:182
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Bicuspid aortic valve, Exaggerated cupid's bow, Wide mouth, Macroglossia, High palate, Aortic val...	OMIM:614501
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit...	ORPHA:978
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair, Abnormality of the dentition	ORPHA:177
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Conical tooth, Bilateral cryptorchidism, Sparse eyebrow, Fine...	OMIM:613451
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Pleural effusion, Ascites	OMIM:614702
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Adrenal hypoplasia, Cleft upper lip, Unilateral renal agenesis, Flexion contracture, Hy...	OMIM:308050
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa...	OMIM:273395
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, Hyper...	ORPHA:2457
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Spars...	OMIM:242300
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Dental crowding, Insulin-resistant diabete...	OMIM:248370
Ogden Syndrome	Cardiogenic shock, Torticollis, Ventricular septal defect, Arrhythmia	ORPHA:276432
Candidiasis, Familial, 8	Macroglossia, Cheilitis	OMIM:615527
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios	OMIM:219730
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Villous atrophy, Glomerulonephritis, Ileus, Hepatitis, Type I diabetes mellitus, Hypoth...	OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Recurrent upper respiratory tract infections, Oral ulcer, Hepatosplenomegaly, Recurrent...	ORPHA:169154
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alop...	ORPHA:35173
Kid Syndrome	Sparse eyelashes, Angular cheilitis, Lip fissure, Abnormality of the dentition, Sparse eyebrow, S...	ORPHA:477
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Peau d'orange, Patent ductus arteriosus, Ventricular septal defect	OMIM:614576
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Alo...	ORPHA:293978
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Progressive Non-Fluent Aphasia	Brain neoplasm	ORPHA:100070
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Trisomy 13	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hydrops fetalis	ORPHA:3378
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Long uvula, Diabetes mellitus, Pericardial effusion, Cryptorchidism, Tooth malposition,...	ORPHA:536532
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici...	ORPHA:672
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Limb-Mammary Syndrome	Alopecia, Absent nipple, Submucous cleft soft palate, Sparse eyebrow, Cleft hard palate, Cleft li...	ORPHA:69085
Aicardi-Goutières Syndrome	Enchondroma, Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes melli...	ORPHA:51
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arth...	ORPHA:254346
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Everted lower lip ver...	OMIM:242100
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Everted lower lip vermilion	OMIM:242510
Fanconi Anemia	Abnormality of the liver, Neoplasm, High palate, Abnormality of the uterus, Atrial septal defect,...	ORPHA:84
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left v...	ORPHA:57777
Cantú Syndrome	Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster...	ORPHA:1517
Spondylo-Ocular Syndrome	Ventricular septal defect, Facial hypotonia	ORPHA:85194
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma...	ORPHA:96170
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia	OMIM:616920
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Abnormality of the...	ORPHA:37
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Thyroiditis, Hepatosplenomegaly, Pulmonary int...	OMIM:606367
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def...	ORPHA:1926
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Deep philtrum, Microtia, Low-set ears, Cardiomegaly	OMIM:613320
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Polyhydramnios, Abnormal left ventricular function, Pulmonic stenosis,...	OMIM:301056
Seckel Syndrome 9	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:616777
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Hypospadias, Abnormal pinna morpho...	OMIM:236680
Refsum Disease, Classic	Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Limb muscle weakness, Abnormal re...	OMIM:266500
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Ventricular septal defect	ORPHA:79243
Kindler Epidermolysis Bullosa	Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Phimosis,...	ORPHA:2908
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Biotinidase Deficiency	Hepatomegaly, Alopecia, Splenomegaly, Sensorineural hearing impairment, Organic aciduria	OMIM:253260
Short Syndrome	Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Sen...	ORPHA:3163
Sarcoidosis	Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hypothyroidi...	ORPHA:797
Bathing Suit Ichthyosis	Eclabion, Alopecia, Multiple joint contractures, Nail dystrophy, Sparse hair	ORPHA:100976
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Elevated circulating parathyroid hormone level, Seconda...	OMIM:277440
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, ...	ORPHA:391428
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hypoplasia of th...	OMIM:264090
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ...	ORPHA:79329
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Posteriorly rotated ears, Patchy alopecia, Low-set ears, Long philtrum,...	OMIM:617763
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Cho...	ORPHA:728
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tooth agenesis, Cardiomyocyte...	OMIM:605676
Encephalocraniocutaneous Lipomatosis	Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Mu...	ORPHA:2396
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Immunodeficiency 7	Splenomegaly, Hepatomegaly, Patchy alopecia, Recurrent respiratory infections	OMIM:615387
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Yunis-Varon Syndrome	Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ...	ORPHA:3472
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, Flexion co...	ORPHA:90153
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Hydroureter, Posteriorly rotated ears, Abnormality of the kidney, Abnormality of the up...	ORPHA:2636
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Prominent antitragus, Narro...	OMIM:245600
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate...	OMIM:270100
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th...	OMIM:142900
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve...	OMIM:265380
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart...	ORPHA:457279
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri...	OMIM:300963
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	OMIM:244300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Patent ductu...	OMIM:601808
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:231580
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ventricular septal defect, Polyhydramnios	OMIM:243150
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Hearing impairment	ORPHA:79394
Leprosy	Absent eyebrow, Alopecia, Skeletal muscle atrophy, Abnormality of the spleen, Testicular mass, Lo...	ORPHA:548
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the gr...	OMIM:201000
Primary Sclerosing Cholangitis	Hypoalbuminemia, Weight loss	ORPHA:171
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplastic finge...	ORPHA:257
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Microdontia, Pili torti, Trichorrhexis nodosa, Sparse latera...	OMIM:261990
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial septal defect, Truncu...	ORPHA:2008
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyop...	OMIM:105210
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios	ORPHA:96201
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Dental crowding, Decrease...	OMIM:614008
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ascites, Ventricular septal defect, Polyhydramnios, Lymphedema	OMIM:235255
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal...	ORPHA:2273
Adams-Oliver Syndrome 1	Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip...	OMIM:100300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Alop...	OMIM:308205
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Alagille Syndrome	Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect	ORPHA:52
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Smith-Lemli-Opitz Syndrome	Failure to thrive, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypo...	OMIM:270400
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly	OMIM:617360
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:277600
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle weakness, Increased hepati...	OMIM:619259
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Elevated circulating parathyroid hormone level	OMIM:600785
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hearing impairment, Cardiomegaly	OMIM:618838
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria	ORPHA:79242
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Urinary incontinence	OMIM:600142
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Congenital diaphragmatic hernia, Anteriorly plac...	OMIM:305600
Congenital Erythropoietic Porphyria	Erythrodontia, Splenomegaly, Scarring alopecia of scalp, Loss of eyelashes, Red-brown urine, Squa...	ORPHA:79277
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di...	OMIM:613309
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:600901
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr...	OMIM:300257
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis	ORPHA:1366
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:619381
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, High palate, Conductive hearing impairment, Dystrophic f...	ORPHA:740
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect	OMIM:300514
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Limb hypertonia	OMIM:620306
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Sensorineural hearing impairment, Nail dystrophy, Onychogryposis	ORPHA:79395
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Ventricular s...	OMIM:117550
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormality of the dentition, Abnormal hair morphology, Nail dystrophy, Nar...	ORPHA:90154
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec...	ORPHA:96167
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:227650
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Bleeding Disorder, Platelet-Type, 21	Alopecia, Menorrhagia	OMIM:617443
Olmsted Syndrome 1	Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope...	OMIM:614594
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri...	OMIM:300998
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal...	OMIM:607721
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Rig...	OMIM:617506
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Myocarditis, Splenomegaly, Oral ulcer, Abn...	ORPHA:50918
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary art...	ORPHA:163956
Olmsted Syndrome 2	Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Phimosis, Urinary bladder inflammation, Esophageal stric...	ORPHA:99921
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Pulmonary arterial hypertension...	OMIM:620025
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou...	ORPHA:158668
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Protruding ear, Periodontitis, Uteri...	ORPHA:286
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect, Prolonged G2 phase of cell cycle	OMIM:227645
Bohring-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defect	OMIM:605039
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Patent ductus arteriosus, Ventricular septal...	ORPHA:79345
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Mitral regurgitation, Congeni...	OMIM:615582
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Hypotrophy of the sma...	OMIM:610443
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:1692
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Lateral Meningocele Syndrome	Patent ductus arteriosus, Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve	OMIM:130720
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Paten...	ORPHA:464311
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Polyhydramnios, Edema, Patent ductus arteriosus, Ascites, Patent foram...	OMIM:269860
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri...	OMIM:616894
C Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:211750
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Dilated cardiomyopathy, Sparse eyelashes	OMIM:610768
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ascites, Ventricular septal defect, Polyhydramnios	ORPHA:1655
Chops Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve...	OMIM:616368
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Phace Association	Patent ductus arteriosus, Ventricular septal defect	OMIM:606519
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Alopecia, Organic aciduria, 3-hydroxyisovaleric a...	OMIM:253270
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Heart ...	OMIM:614866
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Limb hypertonia	OMIM:609460
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele...	OMIM:619534
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Atria...	ORPHA:163979
Mosaic Trisomy 16	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnormal T-wave, Limb h...	ORPHA:444072
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Patent ductus arteriosus, Hypoplastic l...	ORPHA:141127
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
African Trypanosomiasis	Hepatomegaly, Pericarditis, Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of t...	ORPHA:3385
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ...	ORPHA:464738
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus...	OMIM:257920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic...	OMIM:618278
Biotinidase Deficiency	Alopecia, Sensorineural hearing impairment, Organic aciduria, Limb muscle weakness, Hearing impai...	ORPHA:79241
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Juvenile Dermatomyositis	Calcinosis, Alopecia, Pericarditis, Myositis, Cardiomyopathy, Pulmonary fibrosis	ORPHA:93672
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricul...	ORPHA:51608
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T...	ORPHA:261330
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hypercalciuria, Nephrocalcinosis, Hypermagnesiuria, Abn...	ORPHA:428
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Abnormality of the kidney, Abnormality ...	ORPHA:90289
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Abnormal heart morphology	OMIM:227646
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary a...	OMIM:618454
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Patent ductus arteriosus, Tricuspi...	OMIM:164280
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Camptodactyly,...	OMIM:300373
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Oligohydramnios	OMIM:619229
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Hydron...	OMIM:302960
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Patent ductus arteriosus, Atr...	ORPHA:3047
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Colchicine Poisoning	Myocarditis, Alopecia, Renal insufficiency, Oliguria	ORPHA:31824
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Patent ductus arter...	ORPHA:464306
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal...	ORPHA:508498
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:300712
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa...	ORPHA:3380
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Generalized muscle hyp...	OMIM:139210
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal he...	ORPHA:2745
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Ventricu...	OMIM:143095
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ...	OMIM:274000
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
De Barsy Syndrome	Patent ductus arteriosus, Decreased muscle mass, Ventricular septal defect	ORPHA:2962
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal hemidiaphragm morphology, Cardiomegaly, Recurrent pneu...	ORPHA:980
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Pneumothorax, Tall stature	ORPHA:91387
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	ORPHA:96121
Marshall-Smith Syndrome	Ventricular septal defect, Patent ductus arteriosus, Premature ventricular contraction, Hypertens...	OMIM:602535
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:192430
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Cheilitis, Oral ulcer, Abnormal pigmentation of t...	ORPHA:536
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Polyhydramnios	ORPHA:436252
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Elbow flexion contracture, A...	OMIM:117650
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly...	ORPHA:567
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, ...	ORPHA:2162
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Cardiomegaly, Lip telangiectasia, Thick vermilion border, Tinn...	ORPHA:79280
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de...	ORPHA:124
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P...	ORPHA:508488
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an...	OMIM:301068
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Fryns Syndrome	Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Chylothorax, Campto...	OMIM:229850
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou...	OMIM:300166
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am...	OMIM:616268
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arterio...	ORPHA:818
Pmm2-Cdg	Multiple joint contractures, Lipodystrophy, Reduced thyroxin-binding globulin, Abnormal subcutane...	ORPHA:79318
Behcet Syndrome	Genital ulcers, Epididymitis, Oral ulcer, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios	ORPHA:1199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a...	ORPHA:353281
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Transposition of the great a...	OMIM:256520
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Tetralogy of Fallot, Transposition of the great arteries, Subvalvular ...	OMIM:280000
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A...	OMIM:617140
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:616975
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart	ORPHA:2308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Weakness of facial musculature, Ventricular septal defect	OMIM:619418
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati...	OMIM:154400
Degcags Syndrome	Tachycardia, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pulmonary arter...	OMIM:619488
Chromosome 16P13.3 Duplication Syndrome	Facial hypotonia, Ventricular septal defect, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint...	ORPHA:459070
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Ventricular septal defect	OMIM:102500
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Cornelia De Lange Syndrome 1	Ventricular septal defect, Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:122470
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Hypoplasi...	OMIM:182250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly	OMIM:616145
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Mitral ...	OMIM:180849
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip contracture, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, M...	OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:438213
Trichotillomania	Alopecia	OMIM:613229
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	OMIM:619475
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Sympathetic Ophthalmia	Alopecia, Tinnitus, Poliosis, Hearing impairment	ORPHA:79098
Mowat-Wilson Syndrome	Ventricular septal defect, Patent ductus arteriosus, Generalized muscle hypertrophy, Abnormal hea...	OMIM:235730
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Alagille Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:118450
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Flexion contracture, Mitra...	OMIM:194050
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Johanson-Blizzard Syndrome	Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A...	OMIM:243800
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept...	OMIM:606170
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Patent ductus arteriosus, Pulmonic st...	OMIM:261540
Coffin-Siris Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Atrial sept...	OMIM:135900
Cornelia De Lange Syndrome	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr...	ORPHA:199
Digeorge Syndrome	Patent ductus arteriosus, Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:188400
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect	OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmona...	OMIM:216340
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Patent ductus arteriosus, E...	OMIM:268300
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Patent duc...	ORPHA:261552
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu...	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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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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