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Gene: Pbx1 MGI:97495

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

pre B cell leukemia homeobox 1

Synonyms:

Pbx-1, Pbx1b, Pbx1a, 2310056B04Rik, D230003C07Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pbx1 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 Pbx1 (2 diseases)
Human diseases predicted to be associated with Pbx1 (2155 diseases)

The table below shows human diseases associated to Pbx1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay		Congenital diaphragmatic hernia, Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureter...	OMIM:617641
Renal Hypoplasia, Bilateral		Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cys...	ORPHA:97362

The table below shows human diseases predicted to be associated to Pbx1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a...	OMIM:601186
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Lipedema	Edema	OMIM:614103
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Cryp...	ORPHA:401935
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Ure...	OMIM:314390
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Short neck, Micrognathia, Congenital diaphragmatic hernia, Metaphyseal widening, ...	OMIM:263210
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Micrognathia, Micromelia, Abnormal lun...	ORPHA:99776
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Pol...	ORPHA:887
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Polyhydramnios, Abnormality of the thyroid gland, Esophag...	ORPHA:1923
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system,...	ORPHA:95706
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Atrial septal defect,...	ORPHA:2538
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Polyhydramnios, Abnormality of the pancreas...	ORPHA:3032
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Renal agenesis, Esoph...	OMIM:300514
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a...	ORPHA:1834
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor...	ORPHA:140976
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureter...	OMIM:617641
Atelosteogenesis Type I	Laryngeal stenosis, Telecanthus, Polyhydramnios, Malrotation of colon, Laryngotracheal stenosis, ...	ORPHA:1190
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Con...	ORPHA:139466
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndact...	OMIM:236500
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Abnorma...	ORPHA:2516
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Polyh...	OMIM:229850
Feingold Syndrome 1	Polyhydramnios, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent ductus arteri...	OMIM:164280
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Emanuel Syndrome	Dental crowding, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux, Atrial se...	OMIM:609029
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Micro...	ORPHA:1166
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis...	OMIM:615524
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure...	OMIM:113650
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Thick upper lip vermilion, Epicanthus, Inguinal hernia, Delayed eruption of teeth, T...	OMIM:247200
Emanuel Syndrome	Multiple joint contractures, Hooded eyelid, Dental crowding, Congenital diaphragmatic hernia, Hig...	ORPHA:96170
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat...	ORPHA:3426
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, M...	OMIM:618142
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital p...	OMIM:243150
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, Conge...	OMIM:122470
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna...	ORPHA:171839
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Cry...	OMIM:227646
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Cutaneous finger...	OMIM:235510
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism,...	OMIM:603467
Esophageal Atresia	Subglottic stenosis, Bronchitis, Maternal diabetes, Polyhydramnios, Gastrointestinal dysmotility,...	ORPHA:1199
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Posteriorly rotated ears, Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Increased n...	OMIM:618494
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Polyhydramnios, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Urethroves...	OMIM:226730
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Postaxial polydactyly, Unilateral rena...	OMIM:614576
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Intestina...	OMIM:619657
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Polyhydramnios, Aplasia/Hypoplasi...	ORPHA:2256
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Meier-Gorlin Syndrome 8	Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-...	OMIM:617564
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd...	ORPHA:474
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Inguinal hernia, Atypical scarring of skin, Gingival fragility, Colo...	OMIM:617174
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, M...	OMIM:249000
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Dental crowding, Malformed lacrimal duct, Abnormal thymu...	OMIM:219000
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Epicanthus, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandula...	ORPHA:1358
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Synophrys, Gastroesophageal reflux, Short philtrum, Atri...	OMIM:618316
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Unilateral renal agenesis, Precocious puberty, Cryptorchidism,...	ORPHA:3306
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Alopecia, Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, E...	OMIM:613001
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni...	OMIM:611812
Short-Rib Thoracic Dysplasia 12	Edema, Short neck, Bowing of the legs, Polyhydramnios, Lobulated tongue, Short palm, Neonatal dea...	OMIM:269860
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, Polyhydramnios, High palate, ...	OMIM:617746
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Dental crowding, Abn...	ORPHA:2052
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Protruding ear, Short pr...	OMIM:181510
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Patent ductus arteriosus, Orofacial cleft, Annular...	ORPHA:1305
Czeizel-Losonci Syndrome	Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat...	ORPHA:2437
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect...	OMIM:619227
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Diamond-Blackfan Anemia 10	Macrocytic anemia, Posteriorly rotated ears, Hearing impairment, Ectopic kidney, Micrognathia, Co...	OMIM:613309
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi...	OMIM:240300
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Micrognathia, High, narrow palate, Congenital contracture, Zol...	OMIM:248700
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Highly arched eyebrow, Cleft palate, Truncus arteriosus, Smooth philtrum	OMIM:611867
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Inguinal hernia, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Arteria...	OMIM:618653
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Bardet-Biedl Syndrome 19	Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, External genital hypoplas...	OMIM:615996
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Telecanthus, Hypoplasia of the bladder, Bicuspid aortic val...	OMIM:300707
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid...	ORPHA:391641
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Abnormal lung lo...	ORPHA:3097
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Downslanted palpebral fissures, Smoo...	OMIM:614526
Orofaciodigital Syndrome Xvii	Short neck, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped metacar...	OMIM:617926
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Microtia, ...	OMIM:239800
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Hors...	ORPHA:2470
Prune Belly Syndrome	Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspla...	ORPHA:2970
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Unilateral renal agenesis, Micrognathia, Renal hypoplasia...	OMIM:608572
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Trisomy 18	Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Spina bifida, Abnormality of the u...	ORPHA:3380
Distal Deletion 12Q	Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropenis, Patent f...	ORPHA:96149
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Renal hypopl...	OMIM:246560
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Edema, Short neck, Micrognathia, Short metatarsal,...	OMIM:266920
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft pala...	OMIM:610536
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism, High, narrow palate, Upslante...	OMIM:273390
Maternal Phenylketonuria	Epicanthus, Ventricular septal defect, Bilateral ptosis, Esophageal atresia, Abnormal renal morph...	ORPHA:2209
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteri...	ORPHA:77298
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Diabetes mellitus, Intestinal malrotation, Ectopic kidney, Micrognathia,...	ORPHA:94063
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Short neck, Ectopic kidney, Low posterior hairline, Aplasia/hypoplasia of the ute...	ORPHA:2578
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep...	OMIM:608022
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte...	OMIM:601355
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Posteriorly rotated ears, Camptodactyly of finger, Joint hypermobility, Unilateral...	OMIM:619951
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Abnormal lung lobation, ...	ORPHA:508488
Fanconi Anemia, Complementation Group C	Anemic pallor, Ectopic kidney, Flexion contracture, Reticulocytopenia, Neutropenia, Complete dupl...	OMIM:227645
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ...	OMIM:619503
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Abnormal lu...	ORPHA:2631
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Renal hypoplasia, Microtia,...	OMIM:616854
Focal Dermal Hypoplasia	Acute hepatic failure, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Finger s...	ORPHA:2092
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hepatob...	ORPHA:798
Mosaic Trisomy 1	Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Pulmonary arter...	ORPHA:1692
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect, Generalized hirsutism	ORPHA:1918
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Hiatus hernia, Persistence of primary teeth, Patent d...	OMIM:619769
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Distal Duplication 6P	Short neck, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnormal lung lobation, Renal hypop...	ORPHA:1745
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Ho...	OMIM:613630
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Anemi...	OMIM:227650
Craniofrontonasal Dysplasia	Thickened nuchal skin fold, Finger syndactyly, Broad hallux phalanx, Hypospadias, Camptodactyly o...	ORPHA:1520
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Low posterior hairline, Downturned corners of mouth, Wide ...	OMIM:618779
Kagami-Ogata Syndrome	Omphalocele, Atrial septal defect, Inguinal hernia, Hepatomegaly, Ventricular septal defect, Dias...	OMIM:608149
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Short neck, Multiple prenatal fractures, Micrognathia, Flexion contra...	OMIM:616897
Renal Tubular Dysgenesis	Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypopl...	ORPHA:3033
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Anemi...	OMIM:600901
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Asplenia, High palate, Patchy reduction of bone mineral den...	ORPHA:221120
Acrocephalopolydactyly	Short neck, Abnormal renal morphology, Hepatosplenomegaly, Short long bone, Microtia, Limb underg...	ORPHA:221054
15Q24 Microdeletion Syndrome	Joint laxity, Brachydactyly, Hypospadias, Decreased response to growth hormone stimulation test, ...	ORPHA:94065
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Esophag...	ORPHA:95430
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cutis Laxa, Autosomal Recessive, Type Ic	Adrenal hypoplasia, Morgagni diaphragmatic hernia, Periorbital edema, Rectal prolapse, Gastroesop...	OMIM:613177
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl...	OMIM:308050
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total ano...	OMIM:115470
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Anorectal anomaly, Abnormal lung lobation, Abnormal a...	ORPHA:567
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Decreased muscle ...	ORPHA:3027
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Trisomy 1Q	Small scrotum, Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Microretrognathi...	ORPHA:261344
Braddock Syndrome	Congenital muscular torticollis, Posteriorly rotated ears, Unilateral renal agenesis, Short neck,...	ORPHA:52047
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Unilateral r...	OMIM:216360
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Rectourethral fistula, High palate, Gastroesophageal reflux, Ves...	OMIM:300000
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Short neck, Micrognathia, ...	ORPHA:363528
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, Short palm, Accessory spleen, Ele...	OMIM:618419
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorc...	ORPHA:1988
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Polyhydramnios, Renal hypoplasia/a...	ORPHA:3412
Tonne-Kalscheuer Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Velopharyngeal insufficiency, Narro...	OMIM:300978
Van Maldergem Syndrome 2	Osteopenia, Bifid scrotum, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Ante...	OMIM:615546
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B...	OMIM:611555
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal...	ORPHA:3157
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, Pulmonary artery st...	OMIM:301030
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped ...	ORPHA:3156
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormality of the upper urinary tract, Craniosynostosis, Abnormality of the u...	ORPHA:2145
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Se...	OMIM:616541
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Narrow p...	OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid morphology, Orofacial clef...	ORPHA:2990
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Sho...	ORPHA:1703
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Cleft palate, Hypoplasia...	OMIM:601076
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Absent gallbladder, Ventricular septal defect, Hypospadias, Abnormal ...	ORPHA:1335
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f...	OMIM:610199
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Short neck, Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, H...	OMIM:611209
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Renal hypoplas...	OMIM:604273
Charge Syndrome	External genital hypoplasia, Decreased response to growth hormone stimulation test, Polyhydramnio...	OMIM:214800
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Acrocallosal Syndrome	Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Wide anterior fontanel, Sensorineu...	ORPHA:36
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma...	OMIM:615272
Meckel Syndrome	Ureteral duplication, Micrognathia, Asplenia, Urethral atresia, Low-set, posteriorly rotated ears...	ORPHA:564
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Inguinal hernia, Highly arched eyebrow, Bilateral ptosis, Cryptorchidism, Abnormal he...	ORPHA:352490
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Anteriorly place...	OMIM:617661
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Short neck, Absent thumb, Conductive heari...	OMIM:609053
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Recurrent fractures, Unilateral re...	OMIM:618188
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Dextrocardia	Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormal reproductive sy...	ORPHA:1666
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Epicanthus, Ventricular septal defect, Abnormality of the philtrum, Abnormal hair pattern, Renal ...	ORPHA:1770
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hea...	ORPHA:3258
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal aortic arch...	ORPHA:2059
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Unilateral ren...	ORPHA:464311
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Synophrys, Low anterior hairline, Downturned corners of mouth, Gastroesoph...	ORPHA:329224
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Micrognathia, H...	OMIM:212780
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Post...	ORPHA:85284
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Hydrops fetalis, Renal cyst, High palate, Hepatic fibrosis, Syndactyly, Hypospadias, ...	OMIM:614091
Hennekam Syndrome	Ectopic kidney, Lymphedema, Hydrops fetalis, Conductive hearing impairment, Finger syndactyly, Pe...	ORPHA:2136
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Jo...	ORPHA:245
Verheij Syndrome	Joint laxity, Vertebral fusion, Branchial cyst, Renal agenesis, Short neck, Hip dislocation, Rena...	OMIM:615583
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Intellectual Developmental Disorder, X-Linked 99	Broad hallux, Hypospadias, Ectopic kidney, Joint hyperflexibility, Gastroesophageal reflux, Trach...	OMIM:300919
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Esophageal atresia, Micrognat...	OMIM:614083
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Ventricular septal defect, Anterior pituitary hypoplasi...	ORPHA:464306
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Renal hypoplasia, 2...	OMIM:618914
Coffin-Siris Syndrome 3	Sparse scalp hair, Inguinal hernia, Central diaphragmatic hernia, Hirsutism, Hypertrichosis, Clef...	OMIM:614608
Tetraamelia Syndrome 1	Renal agenesis, Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Micrognathia, ...	OMIM:273395
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Laryngeal stenosis, Abnormal oral mucosa morphology, Edema, Dehydration, Gast...	ORPHA:79404
Fanconi Anemia, Complementation Group R	Agenesis of permanent teeth, Bone marrow hypocellularity, Anal atresia, Pelvic kidney, Anemia	OMIM:617244
Takenouchi-Kosaki Syndrome	Inguinal hernia, Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Proximal place...	OMIM:616737
Gastroschisis	Abnormal mesentery morphology, Gastroschisis, Intestinal atresia	ORPHA:2368
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Congenital diaphragmat...	OMIM:166300
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal m...	ORPHA:436252
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Low anterior hairli...	OMIM:617137
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Pancytopenia, Micrognathia, Cryptorchidi...	ORPHA:85321
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Short neck, Hypoplasia of the maxilla, Flexion contract...	OMIM:263650
Degcags Syndrome	Osteopenia, Polyhydramnios, Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, ...	OMIM:619488
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Sensori...	ORPHA:464288
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Fetal pyelectasis, Knee flexion contracture, Pulmonary hypo...	OMIM:616531
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Cryptorchidism,...	ORPHA:2872
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Laryngeal stenosis, Abnormal nasopharynx morphology, Ve...	OMIM:192350
Donnai-Barrow Syndrome	Omphalocele, Posteriorly rotated ears, Proteinuria, Intestinal malrotation, Congenital diaphragma...	ORPHA:2143
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Microret...	ORPHA:1307
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, C...	OMIM:609757
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment	OMIM:235740
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplas...	OMIM:617053
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif...	OMIM:607323
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Supernumerary ...	ORPHA:1001
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Unilateral renal agenesis, Ureteral atresia, Short long bone, Bilateral renal a...	OMIM:618845
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Inguinal hernia, Highly arched eyebrow, Deep philtrum, Upslanted palpe...	OMIM:615834
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr...	ORPHA:185
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un...	OMIM:616300
Kindler Epidermolysis Bullosa	Urethral stricture, Laryngeal stenosis, Flexion contracture, Gingivitis, Inflammation of the larg...	ORPHA:2908
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Renal hyp...	OMIM:616817
Distal Triplication 15Q	Micrognathia, Flexion contracture, High palate, Hernia, Arachnodactyly, Abnormality of the kidney...	ORPHA:314588
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Micrognathia, Dehydration, Nephrocalcinosis, Aminoaciduria, Nephropathy, Ne...	OMIM:208085
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Truncus arterios...	ORPHA:508498
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bifid scrotum, Laryngeal stenosis, Small scrotum, Short nail, Bilateral ptosis, Hypoplastic labia...	ORPHA:324540
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly...	ORPHA:2311
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Dermal translucency, Unilateral renal agenesis, Hip dislocation, Protru...	OMIM:616603
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car...	ORPHA:93941
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiph...	OMIM:615630
Opitz Gbbb Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Vesicoureteral...	ORPHA:2745
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Glue ear, Absence of renal corticomedullary differentiation, Re...	OMIM:619758
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Horseshoe kidney, Microtia, Atresia of the external auditory canal, Conduc...	ORPHA:2213
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac...	OMIM:614376
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph...	OMIM:188400
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Redundant skin, Polyhydramnios, Congenital diaphragm...	ORPHA:116
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed a...	OMIM:601390
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short neck, Ectopic kidney, Short metatarsal, Cone-shape...	OMIM:613328
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas...	ORPHA:84064
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro...	OMIM:617468
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor...	ORPHA:2075
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hi...	OMIM:241800
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Abnormality of the middle ear ossic...	ORPHA:2549
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hadziselimovic Syndrome	Posteriorly rotated ears, Renal hypoplasia, High palate, Low-set ears, Pulmonary artery atresia, ...	OMIM:612946
Agnathia-Otocephaly Complex	Polyhydramnios, Laryngeal hypoplasia, Secundum atrial septal defect, Situs inversus totalis, Aglo...	OMIM:202650
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Asplenia, Biliary atresia, Hepatomegaly, Posteriorly ...	OMIM:306955
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu...	OMIM:612541
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Spa...	OMIM:250250
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Sensorineural hearing impairment, Ab...	OMIM:301022
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Congenital alveolar ...	OMIM:608978
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Premature graying of hair, Early ons...	OMIM:194050
Thanatophoric Dysplasia	Brachydactyly, Abnormality of the kidney, Polyhydramnios, Joint stiffness, Redundant skin, Abnorm...	ORPHA:2655
Rhombencephalosynapsis	Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoesophageal fistula, ...	ORPHA:59315
Acrocardiofacial Syndrome	Hypoplasia of penis, Hyperthyroidism, Hypospadias, Mitral stenosis, Ventricular septal defect, Ca...	ORPHA:2008
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Atelosteogenesis Type Ii	Bilateral cleft palate, Epicanthus, Telecanthus, Laryngeal stenosis, Thin upper lip vermilion, Po...	ORPHA:56304
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobatio...	ORPHA:672
Apert Syndrome	Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Cryptorchidism, Esophagea...	OMIM:101200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of...	OMIM:200980
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophag...	OMIM:619859
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Horseshoe kidney, Blepharophimosis, Pelvic kidney, Short palpebral ...	OMIM:613951
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Cryptorchidism, Jaund...	OMIM:214110
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Polyhydramnios, Micrognathia, Congenital diaphragmatic hernia, Large fleshy...	OMIM:614080
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High p...	OMIM:214100
Acrocephalopolydactylous Dysplasia	Omphalocele, Hypoplastic colon, Epicanthus, Hepatomegaly, Pancreatic fibrosis, Upslanted palpebra...	OMIM:200995
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Low anterior h...	OMIM:617666
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal lung lobation, High palate, L...	ORPHA:958
Congenital Myopathy 17	Mandibular prognathia, Polyhydramnios, High palate, Diaphragmatic eventration, Tapered finger, Re...	OMIM:618975
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Cach Syndrome	Flexion contracture, Renal hypoplasia, Hepatosplenomegaly, Gonadal dysgenesis, Dysphagia, Arthrog...	ORPHA:135
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Nonimmune hydrops fetalis, Polyhydramnios, Adrenal hypoplasia, Hydrops fetalis, Pulmonary hypoplasia	OMIM:613124
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cuta...	OMIM:270400
Nephronophthisis 15	Elevated hepatic transaminase, Polydactyly, Nephronophthisis	OMIM:614845
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Splenomegaly, Nephropathy, Flexion contracture, Hydrops fetalis, P...	ORPHA:87876
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Micrognathia, ...	ORPHA:1926
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, H...	OMIM:145420
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Bilateral cryptorchidism, Low anterior hai...	OMIM:613544
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Ectopic kidney, Short neck, Micrognathi...	ORPHA:233
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Protruding ear, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform...	ORPHA:221139
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Inguinal hernia, Accessory oral frenulum, Umbilical hernia, Ptosis	ORPHA:1373
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Hypoplastic spleen, Slender long bone, Ascites, Micropenis, Decrease...	OMIM:602361
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Oligohydramnios, Pulmonary hypoplasia, Abnormal renal corticomedullary diffe...	OMIM:616733
Chromosome 8Q22.1 Duplication Syndrome	Laryngeal stenosis, Interphalangeal joint contracture of finger, Upslanted palpebral fissure, Nar...	OMIM:151200
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Seckel Syndrome 2	Hypospadias, Micrognathia, Ectopic kidney, Clinodactyly of the 5th finger, Microglossia	OMIM:606744
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation ...	OMIM:602152
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus, Hypoplasia of penis, Bifid epiglottis, Urethrovaginal fistula, Cleft upp...	ORPHA:93271
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Finger jo...	OMIM:244200
Lambert Syndrome	Inguinal hernia, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atre...	ORPHA:1296
Shashi-Pena Syndrome	Short metacarpal, Posteriorly rotated ears, Unilateral renal agenesis, Cupped ear, Osteoporosis, ...	OMIM:617190
Radial-Renal Syndrome	Unilateral renal agenesis, Absent thumb, External ear malformation, Absent radius, Ectopic kidney	OMIM:179280
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho...	ORPHA:244
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Abnormality of the kidney, Unilateral ...	OMIM:118100
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Zaki Syndrome	Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Cupp...	OMIM:619648
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Hydrops fetalis, Large fleshy ...	ORPHA:79328
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Hypospadias, Facial palsy, Polyhydramnios, Edema of the dorsum of hands,...	ORPHA:171430
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyeb...	ORPHA:634
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polyda...	OMIM:614815
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Micrognat...	ORPHA:1046
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph...	OMIM:612530
Imagawa-Matsumoto Syndrome	Cryptorchidism, Anteriorly placed anus, Camptodactyly, Umbilical hernia, Downslanted palpebral fi...	OMIM:618786
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
Donnai-Barrow Syndrome	Omphalocele, Diaphragmatic eventration, Proteinuria, Posteriorly rotated ears, Intestinal malrota...	OMIM:222448
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus...	OMIM:616258
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Chronic bronchitis, Stage 5 chronic kidney disease, C...	OMIM:616629
Li-Campeau Syndrome	Telecanthus, Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Patent ductus arter...	OMIM:619189
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Sh...	OMIM:614294
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly, Nephronophthisis, Ambiguous genitalia, Micropenis	OMIM:614464
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Cleft palate, Narrow palpebral fissure, O...	OMIM:600325
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Pol...	ORPHA:373
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Elevated circula...	OMIM:101800
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Cryptorchidism, Velopharyngeal in...	OMIM:192430
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, Lymphedema, Reduced bo...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, Lymphedema, Reduced bo...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, Lymphedema, Reduced bo...	ORPHA:99226
Turner Syndrome	Osteopenia, Ectopic kidney, Short neck, High, narrow palate, Micrognathia, Lymphedema, Reduced bo...	ORPHA:881
Hogue-Janssen Syndrome 2	Broad hallux, Facial hypotonia, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, ...	OMIM:616362
Acces Syndrome	Recurrent respiratory infections, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistul...	OMIM:619959
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:601163
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Tracheoesophageal fistula, Hydrops...	ORPHA:268249
Meckel Syndrome, Type 6	Abnormal internal genitalia, Occipital encephalocele, Absent gallbladder, Cleft upper lip, Bilobe...	OMIM:612284
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Recurrent respiratory infections, Epicanthus, Thin upper lip vermilion, Dilatation of renal calic...	ORPHA:466950
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Micromelia, Abnormality of the ure...	ORPHA:1035
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Epicanthus, Ventricular septal defect, Cryptorchidism, Low anterior hairline, Abnormal heart morp...	ORPHA:369891
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Rin2 Syndrome	Sparse scalp hair, Irregular dentition, Hypergonadotropic hypogonadism, Cryptorchidism, Gingival ...	ORPHA:217335
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Delayed eruption of primary teeth, Bi...	ORPHA:2409
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re...	OMIM:617784
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Small scrotum, Clitoral...	ORPHA:85201
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Mandibular prognathia, Hypospadias, Ankle flexion contracture,...	ORPHA:435938
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hyp...	ORPHA:2166
Aarskog-Scott Syndrome	Delayed eruption of teeth, Epicanthus, Inguinal hernia, Camptodactyly of finger, Cleft upper lip,...	ORPHA:915
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptorchidism,...	OMIM:617516
Cloacal Exstrophy	Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Abnormality of the clitoris, Uret...	ORPHA:93929
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern...	ORPHA:2847
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
14Q11.2 Microdeletion Syndrome	Epicanthus, Ventricular septal defect, Exaggerated cupid's bow, Highly arched eyebrow, Patent duc...	ORPHA:261120
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recur...	OMIM:252900
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessor...	ORPHA:2919
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rot...	ORPHA:2886
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia, Hypertroph...	OMIM:601389
Hypoglossia With Situs Inversus	Micrognathia, Asplenia, High palate, Polysplenia, Low-set ears, Microglossia	OMIM:612776
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle flexion contracture, Uni...	ORPHA:468631
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, Micrognathia, Short foot, Microtia, High palate, Clinodactyly of the 5th ...	OMIM:248910
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation...	ORPHA:250999
Alg3-Cdg	Abnormality of the gastrointestinal tract, Lipodystrophy, Abnormality of the endocrine system, Co...	ORPHA:79321
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Anal stenosis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Cond...	ORPHA:314679
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he...	ORPHA:2839
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v...	ORPHA:3320
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Myopathy, Hypoplastic spleen, Anemia	OMIM:185070
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Hypothyroidism, Accessory spleen, Porta...	OMIM:620005
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Joint laxity, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Horseshoe kidney, High palate, Ga...	ORPHA:502434
Adams-Oliver Syndrome 5	Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, E...	OMIM:616028
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, High palate, Pa...	ORPHA:506358
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormal pinna morphology, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Pul...	ORPHA:75389
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, High palate, P...	OMIM:135900
Renal Agenesis, Bilateral	Epicanthus, Renal agenesis, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Siren...	ORPHA:1848
Pelvic Lipomatosis With Crossed Renal Ectopia	Pelvic lipomatosis, Ectopic kidney	OMIM:169545
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Decreased muscle mass, Ectopic kidney, High palate, Thickened helices, Sma...	ORPHA:3063
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Short neck, Knee flexion contracture, Prominent crus of helix, Cryptorchidism, ...	OMIM:619194
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an...	OMIM:618280
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Joubert Syndrome 16	Encephalocele, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Branchial fistula, Inguinal hernia, Ventricular septal defect, Camptodactyl...	ORPHA:261330
Greenberg Dysplasia	Polyhydramnios, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy vari...	OMIM:215140
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Macrotia, Unilateral renal agenesis	OMIM:618504
Buratti-Harel Syndrome	Epicanthus, Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insuffi...	OMIM:619314
Seckel Syndrome 8	Micrognathia, Ectopic kidney	OMIM:615807
Tarp Syndrome	Micrognathia, Glossoptosis, High palate, Neonatal death, Microtia, Low-set ears, Hepatic failure,...	OMIM:311900
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Penile Agenesis	Cloacal abnormality, Maternal diabetes, Fetal pyelectasis, Anorectal anomaly, Bilateral renal hyp...	ORPHA:49
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Anapl...	ORPHA:142
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia	ORPHA:89844
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate, Ect...	ORPHA:87
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cryptor...	ORPHA:2063
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi...	OMIM:615993
Trisomy 20P	Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, Hernia, Microdon...	ORPHA:261318
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Polyhydramnios, Flexion contracture, Elbow flexion contracture, Retrognathia, ...	OMIM:617194
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polyd...	OMIM:619879
Cousin Syndrome	Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen...	OMIM:260660
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, A...	ORPHA:261537
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Gas...	ORPHA:818
Acitretin/Etretinate Embryopathy	Epicanthus, Antecubital pterygium, Conotruncal defect, High palate, Hypoplasia of the thymus, Atr...	ORPHA:40366
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Foot oligodactyly...	OMIM:154400
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Pulmonary hypoplasia, Dysphagia, A...	OMIM:616867
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, A...	ORPHA:2152
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Tapered finger, Recurrent upp...	ORPHA:284180
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Abnormal epiglottis morphology, Cleft palate, Aspiration pneumonia	ORPHA:141152
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Short neck, Micrognathia, Bifid humerus, Lacunar halos around chondrocyte...	OMIM:256050
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Micrognathia, Anteriorly placed anus, High palate, Advanced eruption of teeth, Dis...	OMIM:619148
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Hypospadias, Abnormal size of the palpebral fissures, Bicuspid aortic valve, H...	ORPHA:500159
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica...	OMIM:618011
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Synophrys, Downturned...	ORPHA:444077
Scarf Syndrome	Bifid scrotum, Epicanthus, Inguinal hernia, Diastasis recti, Cryptorchidism, Hepatocellular adeno...	ORPHA:3134
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal...	OMIM:618454
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Polyhydramnios, Tapered finger, Micrognat...	OMIM:618829
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Micro...	OMIM:602782
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Epicanthus, Patent ductus arteriosus, Short philtrum, Abnormal oral cavity morphology, Umbilical ...	ORPHA:1516
Ptosis-Vocal Cord Paralysis Syndrome	Laryngomalacia, Ptosis	ORPHA:2997
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamart...	OMIM:263520
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipom...	OMIM:181270
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pleural e...	OMIM:603278
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Feingold Syndrome 2	Ventricular septal defect, Intestinal atresia	OMIM:614326
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal...	OMIM:619522
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cerebrocostomandibular Syndrome	Polyhydramnios, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Ga...	OMIM:117650
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Low anterior hairline, Glossoptosis, Eyelid coloboma, High pa...	ORPHA:861
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral rena...	ORPHA:487796
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac...	OMIM:614922
Carpenter Syndrome 1	External genital hypoplasia, High palate, Atrial septal defect, Spina bifida occulta, Persistence...	OMIM:201000
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Cleft hard palate, A...	ORPHA:261552
Congenital Laryngomalacia	Laryngomalacia, Non-midline cleft lip, Cleft palate	ORPHA:2373
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Polyhydramnios, Increased connective tissue, Hydrops fetalis, H...	OMIM:255320
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Congenital diaphragmat...	ORPHA:380
Congenital Pulmonary Valvar Stenosis	Atrial septal defect, Laryngeal stenosis	ORPHA:3189
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, High palate, Pallor, Triphalangeal thumb, Neutropeni...	OMIM:105650
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Congenit...	ORPHA:1488
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ...	ORPHA:699
Multiple Pterygium Syndrome, X-Linked	Epicanthus, Multiple pterygia, Edema, Polyhydramnios, Cleft upper lip, Flexion contracture, Cleft...	OMIM:312150
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Micrognathia, Preaxial polydactyly, Narrow greater sciatic notch, Neonatal death, Sho...	OMIM:617925
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Low anterior hairline, Downturned corners ...	OMIM:601808
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Highly arched eyebrow, Female pseudohermaphroditism, Ecto...	ORPHA:1519
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Short palm, Long to...	OMIM:614527
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Gastroesophageal reflux, Micropenis, Hypospadias, Tapered finger, Cryptorc...	OMIM:301040
Neurooculorenal Syndrome	Subglottic stenosis, Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic pos...	OMIM:620305
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia...	ORPHA:107
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Int...	OMIM:615665
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow...	ORPHA:811
Proximal 16P11.2 Microduplication Syndrome	Micropenis, Microtia, Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Posteriorly rotated ears, Renal agenesis, Adrenal hypoplasia, Cryptor...	OMIM:264480
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg...	OMIM:186500
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Macs Syndrome	Eclabion, Irregular dentition, Epicanthus, Dilation of Virchow-Robin spaces, Palpebral edema, Hyp...	OMIM:613075
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Toe syndactyly, Palpebral edema, Camptodactyly of finge...	ORPHA:261337
Glycogen Storage Disease Iv	Edema, Polyhydramnios, Portal hypertension, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly...	OMIM:232500
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Mulchandani-Bhoj-Conlin Syndrome	Posteriorly rotated ears, 2-3 toe syndactyly, Horseshoe kidney, Intrauterine growth retardation, ...	OMIM:617352
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short neck, Postaxial polydactyly, Hamartoma of tongue, Polyhydramnios, Congen...	OMIM:616546
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Intest...	OMIM:309900
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Esophageal varix, Arteriosclerosis, ...	ORPHA:75234
Fanconi Anemia	Abnormal eyelid morphology, Leukopenia, Abnormality of the liver, High palate, Abnormality of the...	ORPHA:84
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Epicanthus, Everted upper lip vermilion, Ventricular septal defect, Exagger...	OMIM:615879
Diamond-Blackfan Anemia	Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Pall...	ORPHA:124
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art...	OMIM:251290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m...	ORPHA:3405
Down Syndrome	Epicanthus, Aganglionic megacolon, Protruding tongue, Renal hypoplasia/aplasia, Microdontia, Abno...	ORPHA:870
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Uplifted earlobe, Tapered finger, Micrognathia, Cryptorchidism, Sm...	ORPHA:3459
Hydrolethalus Syndrome 1	Polyhydramnios, Micrognathia, Abnormal lung lobation, Accessory spleen, Hypospadias, Bifid uterus...	OMIM:236680
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Metaphyseal dysplasia, Hypospadias, Posteriorly rotated ears, Decreased response to g...	OMIM:618336
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Polyhydramnios, Cryp...	ORPHA:994
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, High palate, Widely spaced...	ORPHA:2322
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Fe...	OMIM:274000
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Rauch-Steindl Syndrome	Attached earlobe, Hepatomegaly, Micrognathia, Prominent crus of helix, Bilateral renal hypoplasia...	OMIM:619695
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, High palate, Chronic otitis media, Apl...	ORPHA:96121
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bicuspid aortic valve, Horseshoe kidney, Anal atresia, Vaginal fistula, Laryng...	OMIM:619318
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:213980
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn...	OMIM:300400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Short neck, External ear malforma...	ORPHA:251071
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Fg Syndrome Type 1	Micrognathia, Generalized joint laxity, High palate, Gastroesophageal reflux, Finger syndactyly, ...	ORPHA:93932
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Cleft palate, High palate, Arthrogryposis multiplex co...	OMIM:615731
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Recurrent respiratory infections, Epicanthus, Tented upper lip vermilion, Thin upper lip vermilio...	OMIM:616579
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ...	OMIM:602200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Abnormal medullary pyramid morphology, Gastroesophageal reflux, Limb undergr...	ORPHA:79243
Ehlers-Danlos Syndrome, Classic-Like	Striae distensae, Unilateral renal agenesis, Hiatus hernia, Increased connective tissue, Ambiguou...	OMIM:606408
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal pinna morphology, Wide anterior fontanel, Glutaric aciduria, Jaundice, Gen...	OMIM:231680
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Cleft palate, Joint hypermobility	OMIM:619504
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Short neck, Bowing of the legs, Micrognathia, Flexion contracture, Hydrops fetalis, E...	ORPHA:1865
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Epicanthus, Dilatation of renal calices, Synophrys, Gastrointestinal dy...	ORPHA:466943
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, High palate, Vesicoureteral reflu...	OMIM:617063
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Cleft soft palate, Tracheal stenosis, Secu...	OMIM:620183
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cantu Syndrome	Epicanthus, Bicuspid aortic valve, Curly eyelashes, Cardiomegaly, Pericardial effusion, Lymphedem...	OMIM:239850
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Gast...	ORPHA:2162
Diastrophic Dysplasia	Hip contracture, Laryngotracheal stenosis, Cleft palate	OMIM:222600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Intestinal malrotation, Splenomegaly, Upslanted palpebral fissure, Pulmonary hypoplasia	ORPHA:3035
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa...	OMIM:616898
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Renal agenesis, Clitoral hypertrophy, Ectopic kidney, Pulmon...	ORPHA:140952
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Chromosome 6Pter-P24 Deletion Syndrome	Anal atresia, Telecanthus, Epicanthus, Ventricular septal defect, Tented upper lip vermilion, Den...	OMIM:612582
Mosaic Variegated Aneuploidy Syndrome 3	Cleft palate, Horseshoe kidney, Low-set ears, Arthrogryposis multiplex congenita, Nephroblastoma	OMIM:617598
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Atelis Syndrome 1	Glue ear, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, Microtia, High palate, Dry...	OMIM:620184
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Nonimmune hydrops fetalis, Lacticaci...	OMIM:619003
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
22Q11.2 Duplication Syndrome	Epicanthus, Ventricular septal defect, Abnormality of the pharynx, Urethral stenosis, Cleft palat...	ORPHA:1727
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Arachnodactyly, Camptoda...	ORPHA:2994
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab...	ORPHA:1507
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Cryptorchidism, Cleft palate, Protruding ear, Abdominal situs inversus, C...	OMIM:619123
Ogden Syndrome	Redundant neck skin, Congenital hip dislocation, Redundant skin, Maternal diabetes, Short neck, M...	OMIM:300855
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Small hypothenar eminence, Polyhydramnios, Short thumb, Osteoporos...	OMIM:612562
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Edema, Protruding tongue, Respiratory t...	ORPHA:93400
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Endometriosis, Unilateral renal ag...	OMIM:613680
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Conductive hearing impairment, Vesicoureteral reflux, Vertebral fusion, Hypo...	ORPHA:959
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Gastrointestinal dysmotility, High palate, Gastroesophageal reflux, Vesicoureteral re...	ORPHA:453499
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Inguinal hernia, Hypospadias, Anal stenosis, Cryptorchidism, Abnormal heart morpholo...	OMIM:601499
Isolated Atp Synthase Deficiency	Hepatomegaly, Sensorineural hearing impairment, Renal hypoplasia, 3-Methylglutaconic aciduria, Hy...	ORPHA:254913
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, R...	OMIM:312870
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Short neck, Reduced bone m...	ORPHA:2983
Renal Hypodysplasia/Aplasia 4	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Renal Agenesis	Renal insufficiency, Absent vas deferens, Ventricular septal defect, Renal agenesis, Proteinuria,...	ORPHA:411709
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Hypospadias, Highly arched eyebrow, Ventricular septal defect, Synophrys, ...	OMIM:617751
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Distal Deletion 15Q	Congenital diaphragmatic hernia, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndac...	ORPHA:1596
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Juvenile Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Protruding tongue, Generalized hypertri...	ORPHA:93399
Bardet-Biedl Syndrome 3	External genital hypoplasia, Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic h...	OMIM:606164
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Shoulder dislocation, Prom...	OMIM:245600
Suleiman-El-Hattab Syndrome	Synophrys, Downturned corners of mouth, High palate, Atrial septal defect, Frontal hirsutism, Pat...	OMIM:618950
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test, Highly arched eyebrow, Cleft upper lip, Ho...	OMIM:216100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Chung-Jansen Syndrome	Epicanthus, Cryptorchidism, Synophrys, Upslanted palpebral fissure, Thin vermilion border, High p...	OMIM:617991
Camptodactyly Syndrome, Guadalajara Type 1	Attached earlobe, Low-set, posteriorly rotated ears, Hallux valgus, Toe syndactyly, Brachydactyly...	ORPHA:1327
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Intrau...	ORPHA:60041
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatars...	ORPHA:96148
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear, High palate, Promi...	OMIM:147920
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Micropenis, Pancreatic hypoplasia, H...	ORPHA:83617
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Ulnar-Mammary Syndrome	Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal...	ORPHA:3138
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Py...	ORPHA:261197
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Sparse hair, Hepatomegaly, Elevated circulating aspartate am...	OMIM:280000
Microphthalmia, Syndromic 3	Hypogonadotropic hypogonadism, Hypospadias, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:206900
Tetraploidy	Renal hypoplasia/aplasia, Micrognathia, Radial club hand, Cleft palate, Hydronephrosis, Aplasia/H...	ORPHA:3305
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage, Horseshoe kidney	ORPHA:2867
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Larynx Atresia	Recurrent respiratory infections, Laryngomalacia	ORPHA:1202
Shwachman-Diamond Syndrome 2	Normocytic anemia, Subglottic stenosis, Hepatomegaly, Steatorrhea, High palate, Laryngomalacia, N...	OMIM:617941
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Syndactyly, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cle...	OMIM:614701
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Limited elbow movement, Sho...	OMIM:261540
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Arachnodactyly, Sandal gap, Intestinal malrotation, Carious teeth, Cryptorchidism, R...	OMIM:617602
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Micrognat...	ORPHA:2257
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Laryngeal stenosis, Hepatosplenomegaly	ORPHA:93352
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Cleft palate, Glossopt...	ORPHA:1388
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Purpura, Petechiae, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Spleno...	OMIM:608013
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Chops Syndrome	Curly hair, Ventricular septal defect, Thick hair, Cryptorchidism, Synophrys, Patent ductus arter...	OMIM:616368
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh...	OMIM:609945
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Narrow mouth, Synophrys, Gingival overgrowth, Upslanted palpebral fissu...	OMIM:616977
Xk Aprosencephaly Syndrome	Ventricular septal defect, Abnormal external genitalia, Polyhydramnios, Narrow mouth, Atrial sept...	ORPHA:3469
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Cleft palate, Renal cyst, Right aortic a...	OMIM:231060
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Lymphedema, High palate, Protein-losing enteropathy, Micropenis, Hepatomegaly, Th...	OMIM:235255
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Multiple Pterygium Syndrome, Lethal Type	Epicanthus, Multiple pterygia, Edema, Polyhydramnios, Flexion contracture, Cleft palate, Hypoplas...	OMIM:253290
Restrictive Dermopathy 1	Ureteral duplication, Adrenal hypoplasia, Micrognathia, Polyhydramnios, Flexion contracture, Over...	OMIM:275210
Hurler-Scheie Syndrome	Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Camptodactyly of finger, Heparan...	OMIM:607015
Idiopathic Congenital Hypothyroidism	Facial edema, Elevated circulating thyroid-stimulating hormone concentration, Increased radioacti...	ORPHA:95717
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Cleft palate, Gastroesoph...	ORPHA:576283
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibrosis, Hypoplastic iliac ...	OMIM:208500
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Postaxial polydactyly, Micrognathia, Sensorineural hearing impairment, Clin...	OMIM:618460
8Q12 Microduplication Syndrome	Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Highly arched eyebrow, ...	ORPHA:228399
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa, Cutaneous finge...	OMIM:224690
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Hypospadias, Cryptorchidism, Abnormal heart morphology, Camptodactyly of toe, Um...	OMIM:175700
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Bicuspid aortic valve, Exaggerated cupid's bow, Wide mouth, Macroglossia, Hi...	OMIM:614501
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmenta...	OMIM:169400
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Meckel diverticulum, Hypospadias, Ventricular septal d...	ORPHA:1708
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Umbilical hernia, Jaundice, Hypothyroidism	ORPHA:2349
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Small scrotum, Hypospadias, Inguinal hernia, Edema, Cryptorchidism, Cleft palate, Abn...	ORPHA:2505
Ritscher-Schinzel Syndrome 1	Hypospadias, Ventricular septal defect, Decreased response to growth hormone stimulation test, Ad...	OMIM:220210
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Polyhydramnios, Flexion contracture, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:612138
Lateral Meningocele Syndrome	Telecanthus, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Neurogenic bladde...	OMIM:130720
Renal Hypoplasia, Bilateral	Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cys...	ORPHA:97362
Snijders Blok-Campeau Syndrome	Epicanthus, Inguinal hernia, Perimembranous ventricular septal defect, High palate, Widely spaced...	OMIM:618205
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Thyroid Hemiagenesis	Macroglossia, Umbilical hernia, Jaundice, Thyroid agenesis	ORPHA:95719
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chroni...	OMIM:243910
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenom...	OMIM:615631
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft ...	OMIM:313850
Monosomy 9P	Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Anotia, H...	ORPHA:261112
Mend Syndrome	Microretrognathia, Redundant neck skin, Posteriorly rotated ears, Broad hallux, Overlapping toe, ...	OMIM:300960
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa...	ORPHA:95716
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ...	ORPHA:1120
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Epicanthus, Lacrimal duct stenosis, Ventricular septal defect, Intestin...	ORPHA:457193
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, ...	ORPHA:1486
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc...	OMIM:613490
Larynx, Congenital Partial Atresia Of	Laryngeal obstruction, Laryngeal web	OMIM:150300
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Hypospadias, Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus,...	ORPHA:436003
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Redundant skin, Generalized joint laxity, Functional abnormality of the bl...	ORPHA:2953
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ...	OMIM:208530
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Hypospadias, Tracheal stenosis, Laryngeal hypoplasia, Cryptorchidism, Patent ductus ...	OMIM:217980
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ...	ORPHA:90646
Andersen-Tawil Syndrome	Joint laxity, Abnormality of dental color, Persistence of primary teeth, Micrognathia, Hypoplasia...	ORPHA:37553
Zimmermann-Laband Syndrome 1	Synophrys, Low anterior hairline, Downturned corners of mouth, High palate, Gastroesophageal refl...	OMIM:135500
Breath-Holding Spells	Pallor	OMIM:607578
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Bilateral renal hypoplas...	OMIM:243605
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esoph...	ORPHA:75233
Joubert Syndrome 3	Low-set ears, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
C Syndrome	Redundant skin, Polyhydramnios, Short neck, Micrognathia, Congenital diaphragmatic hernia, Microm...	ORPHA:1308
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Aplasia/Hypoplasia of the uvula, High, narrow palate, L...	ORPHA:2496
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Ventricular septal defect, Almond-shaped palpebr...	OMIM:619103
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ...	OMIM:612938
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral ref...	OMIM:107480
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Hepatomegaly, Micromelia, Abn...	ORPHA:1597
Achondrogenesis	Inguinal hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Long philtrum,...	ORPHA:932
Hajdu-Cheney Syndrome	Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mouth, Coarse hai...	ORPHA:955
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Prominent superficial veins, Inguinal hernia, Carotid artery stenosis, Cryptorchi...	OMIM:618000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, High palate, Abnormality of the uterus, Protein-losing enteropathy, Abnormal fall...	ORPHA:1655
Muscular Hypertonia, Lethal	Umbilical hernia, Pneumonia	OMIM:254120
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Gastr...	ORPHA:268261
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
8P23.1 Duplication Syndrome	Ventricular septal defect, Highly arched eyebrow, Adrenal insufficiency, Thick vermilion border, ...	ORPHA:251076
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, Protruding ear, High palate, Neonata...	OMIM:259775
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Anterior pituitary hypoplasia, Adren...	ORPHA:264200
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Upper eyelid e...	ORPHA:412035
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Hernia, Chronic otitis me...	ORPHA:280
Intellectual Disability, Buenos-Aires Type	Abnormal dental morphology, Open bite, Dental malocclusion, Fine hair, Abnormal cardiac septum mo...	ORPHA:3079
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Uplifted earlobe, ...	OMIM:619841
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:614876
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morph...	ORPHA:85166
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Inguinal hernia, Craniosynostosis, Micrognathia, Abnormality of ...	ORPHA:166035
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Cleft palate, Methylmalonic aciduria, Reduced nu...	ORPHA:79284
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Orofaciodigital Syndrome V	Unilateral ptosis, Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, ...	OMIM:174300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the kidney, Abnormality of the dentition, Precocious...	ORPHA:261652
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Edema, Micromelia, Hypoplas...	ORPHA:93296
Ulnar-Mammary Syndrome	Subglottic stenosis, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, M...	OMIM:181450
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Lipoma,...	OMIM:612918
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Gast...	OMIM:300373
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:185800
Cocaine Embryofetopathy	Encephalocele, Thoracoabdominal eventration, Abnormality of the urinary system, Intestinal atresia	ORPHA:1911
Opitz-Kaveggia Syndrome	Multiple joint contractures, Short neck, Micrognathia, Anteriorly placed anus, Prominent fingerti...	OMIM:305450
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Redundant neck skin, External genital hypoplasia, Polyhydramnios, Short ne...	ORPHA:96334
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Septate v...	OMIM:194080
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Hypospadias, Posteriorly rotated ears, Unilateral renal ...	OMIM:151100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Short neck, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Gene...	OMIM:613561
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Rhizomelia, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Epicanthus, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excre...	OMIM:253220
Coxoauricular Syndrome	Microtia, Hip dislocation, Hearing impairment	OMIM:122780
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hyperplasia...	ORPHA:231226
Autosomal Dominant Cutis Laxa	Osteopenia, Redundant neck skin, Redundant skin, Protruding ear, Hernia, Emphysema, Joint laxity,...	ORPHA:90348
Hajdu-Cheney Syndrome	Absent frontal sinuses, Synophrys, Renal cyst, High palate, Premature loss of teeth, Hypospadias,...	OMIM:102500
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Increa...	OMIM:222470
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Micrognathia, Intrahepatic cholestasis, Postax...	ORPHA:46059
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Pagod Syndrome	Encephalocele, Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Spina ...	ORPHA:991
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of p...	OMIM:618506
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Short neck, Clinodactyly of the 5th finger, Joint laxity, Hyposp...	OMIM:304110
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Mitral ...	ORPHA:137834
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Narrow mouth, Patent ductus arteriosus, Flexion contracture, Cardi...	OMIM:616866
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Polyhydramnios, Micrognathia, Crypto...	ORPHA:3301
White-Sutton Syndrome	Joint laxity, Duplicated collecting system, Mandibular prognathia, Posteriorly rotated ears, Faci...	OMIM:616364
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter...	ORPHA:2241
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr...	OMIM:618955
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragma...	ORPHA:199
Optic Atrophy 1	Pallor	OMIM:165500
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft...	ORPHA:2753
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic her...	OMIM:208050
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,...	OMIM:616367
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Posteriorly rotated ears, Congenital diaphragmatic hernia	OMIM:300887
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Renal n...	ORPHA:536467
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega...	ORPHA:96191
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of...	OMIM:614857
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Achondrogenesis Type 1B	Femoral hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Long philtrum, ...	ORPHA:93298
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Bicornuate uterus, Pulmonary hypoplasia, Low-set ears, Vag...	OMIM:191830
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ...	OMIM:200990
Schisis Association	Encephalocele, Omphalocele, Renal agenesis, Spina bifida, Congenital diaphragmatic hernia, Microm...	ORPHA:63862
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Laryngeal hyp...	ORPHA:1790
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Decreased thyroid-stimulating hormone level, Macroglossia, Decreased circulating T4 ...	OMIM:275100
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Orofacial cleft, Urethral atre...	ORPHA:1896
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Hydrone...	OMIM:613735
Granulomatosis With Polyangiitis	Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Oral...	OMIM:608710
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polyda...	OMIM:608091
Ehlers-Danlos Syndrome, Classic Type, 1	Epicanthus, Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Mitral valve prolap...	OMIM:130000
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hyperplasia of the maxill...	ORPHA:231214
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Narrow mouth, Deep p...	OMIM:255800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Epicanthus, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Polyhydramnio...	ORPHA:254528
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Knee fle...	OMIM:619708
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Craniosynostos...	OMIM:617140
Hurler Syndrome	Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Heparan sulfate excretion in uri...	OMIM:607014
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Abnormal lung lobation, High palate, Gastroesophageal reflux, Thickened helices, ...	OMIM:607872
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft palate, Microtia, Camptodactyly	OMIM:618761
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn...	ORPHA:2204
Thakker-Donnai Syndrome	Posteriorly rotated ears, Congenital diaphragmatic hernia, Short neck, Tracheoesophageal fistula,...	ORPHA:1780
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor...	ORPHA:314585
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Polyhydramnios, Cryptorchidism, Non-midline cleft lip, Orofac...	ORPHA:1027
Dworschak-Punetha Neurodevelopmental Syndrome	Short neck, Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicoureteral reflux	OMIM:619955
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Ventricular s...	OMIM:620210
Houge-Janssens Syndrome 3	Epicanthus, Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atr...	OMIM:618354
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Long finge...	ORPHA:447980
Achondrogenesis Type 1A	Femoral hernia, Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Long philtrum, ...	ORPHA:93299
Dystonia 31	Abnormal posturing	OMIM:619565
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Micrognathia, Splenomeg...	OMIM:617913
Atelosteogenesis, Type I	Encephalocele, Laryngeal stenosis, Polyhydramnios, Cryptorchidism, Cleft palate	OMIM:108720
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia	OMIM:616025
Stuve-Wiedemann Syndrome 1	Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue,...	OMIM:601559
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Mandibular prognathia, Lipoatrophy, Abnormal den...	ORPHA:1133
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Polyhydramnios, Atrial septal defect, Sparse h...	ORPHA:1662
Braddock-Carey Syndrome 1	U-Shaped upper lip vermilion, Curly hair, Telecanthus, Aortic valve prolapse, Ventricular septal ...	OMIM:619980
Tetrasomy 5P	Recurrent respiratory infections, Pericallosal lipoma, Redundant neck skin, Posteriorly rotated e...	ORPHA:3309
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Short neck, Coxa valga, Micrognathia, Hip dislocation, Renal h...	OMIM:619297
Geleophysic Dysplasia 3	Subglottic stenosis, Hepatomegaly, Pneumonia, Polyhydramnios, Thick vermilion border, Long philtr...	OMIM:617809
Lateral Meningocele Syndrome	Epicanthus, Inguinal hernia, Ventricular septal defect, Dental crowding, Cryptorchidism, High, na...	ORPHA:2789
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Meier-Gorlin Syndrome 3	Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroeso...	OMIM:613803
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Meta...	ORPHA:99646
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of ren...	OMIM:120330
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Microcytic anemia, Conductive hearing impairment, Skin vesicle, Small earl...	ORPHA:99843
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Thin upper lip vermilion, Epicanthus, Telecanthus, Overriding aorta, Ventricular sep...	OMIM:601927
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, H...	ORPHA:2319
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Icf Syndrome	Recurrent respiratory infections, Epicanthus, Abnormality of neutrophils, Malabsorption, Protrudi...	ORPHA:2268
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Absent nipple, Patent ductus arteriosus, Mitral valve prolapse, High palate, Umbilica...	OMIM:104350
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, ...	ORPHA:3404
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Telecanthus, Cryptorchidism, Low posterior hairline, Shawl scrotum, Umbilical hernia,...	ORPHA:1778
1Q44 Microdeletion Syndrome	Epicanthus, Telecanthus, Exaggerated cupid's bow, Intestinal malrotation, Synophrys, Horseshoe ki...	ORPHA:238769
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre...	ORPHA:163976
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Short neck, 2-3 toe syndactyly, Horseshoe kidney, Low posterior hairline, Short foo...	OMIM:300860
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia...	ORPHA:2438
Intellectual Developmental Disorder, Autosomal Recessive 73	Thick upper lip vermilion, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Deep ...	OMIM:619717
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Lymphedema, Spleno...	ORPHA:584
Luo-Schoch-Yamamoto Syndrome	Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of lower eyelids, Wide mouth, W...	OMIM:619460
Transaldolase Deficiency	Synophrys, Deep philtrum, Hepatic fibrosis, Short philtrum, Atrial septal defect, Patent foramen ...	OMIM:606003
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, External genital hypoplasia, Spina bifida, Abnormal eyel...	ORPHA:2671
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Cupped ear, Horseshoe kidney, High palate, Low-set ears, Campt...	OMIM:614846
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Gastroesophageal reflux, H...	ORPHA:191
Ohdo Syndrome, X-Linked	Inguinal hernia, Small scrotum, Posteriorly rotated ears, Overlapping toe, Ulnar deviation of the...	OMIM:300895
Multiple Intestinal Atresia	Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis	ORPHA:2300
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Skeletal muscle atrophy, Arachnodac...	OMIM:620370
Hb Bart'S Hydrops Fetalis	Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios	ORPHA:163596
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Cebalid Syndrome	Abnormal pinna morphology, Posteriorly rotated ears, Congenital diaphragmatic hernia, High palate...	OMIM:618774
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Renal hypoplasia, Tubuloin...	OMIM:617595
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Short neck, Myelomeningocele, Epiphyseal stippling, Macroglossia, Microtia, Intrau...	ORPHA:1914
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Gastroesophageal reflux, Hernia	ORPHA:75497
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega...	ORPHA:3226
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Abnormal renal corticomedullary different...	OMIM:617397
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Cupped ear, Overfolded helix, Microtia, Rectovaginal fistula, Vesicour...	OMIM:617466
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Limitation of joint mobility, Fl...	ORPHA:171719
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Pro...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmotility, Pro...	ORPHA:352665
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Materna...	OMIM:134780
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia, Hypothyroidism, Goiter	OMIM:274400
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu...	OMIM:607330
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Pulmonary ...	OMIM:617237
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Overfolded hel...	ORPHA:79113
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly...	OMIM:600057
Ohdo Syndrome	Joint laxity, Small scrotum, Proteinuria, Micrognathia, Cryptorchidism, Hypoplasia of teeth, Micr...	OMIM:249620
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Purpura, Abnor...	ORPHA:33226
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Trisomy 13	High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Hernia, Intrauterine growth retarda...	ORPHA:3378
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent...	ORPHA:2712
Feingold Syndrome Type 2	Jejunal atresia, Ventricular septal defect	ORPHA:391646
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Pericardial lymphangiectasia, Lymphedema, Osteoporosis, Pulmonary lymphangiectasia, M...	OMIM:616006
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep...	OMIM:600987
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu...	ORPHA:980
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Redundant skin, ...	OMIM:219100
Bamforth-Lazarus Syndrome	Bifid epiglottis, Polyhydramnios, Thyroid agenesis, Cleft palate, Congenital hypothyroidism	OMIM:241850
Jansen-De Vries Syndrome	Posteriorly rotated ears, Central diaphragmatic hernia, Small hand, Short foot, Gastroesophageal ...	OMIM:617450
Perlman Syndrome	Distal ileal atresia, Nephrogenic rest, Renal hamartoma, Edema, Micrognathia, Polyhydramnios, Cry...	OMIM:267000
Congenital Myopathy 22B, Severe Fetal	Polyhydramnios, Short neck, Micrognathia, Flexion contracture, High palate, Generalized amyotroph...	OMIM:620369
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubu...	ORPHA:1909
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct...	ORPHA:65759
Kabuki Syndrome 2	Joint laxity, Natal tooth, Brachydactyly, Micrognathia, Cupped ear, Hip dislocation, Dental maloc...	OMIM:300867
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Ssr4-Cdg	Abnormality of the gastrointestinal tract, Macrotia, Gastroesophageal reflux, Horseshoe kidney	ORPHA:370927
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Redundant skin, Micrognathia, High, narrow palate, Hypoplas...	OMIM:612289
Meier-Gorlin Syndrome 5	Small earlobe, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Irregular femoral epiphys...	OMIM:613805
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Lipoatrophy, Abnormal hair morphol...	ORPHA:2963
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, Gastroesophageal ...	ORPHA:280633
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor...	ORPHA:2357
Distal Deletion 3P	Epicanthus, Telecanthus, Inguinal hernia, Cryptorchidism, Cleft palate, Downturned corners of mou...	ORPHA:1620
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Inguinal hernia, Nephropathy, Nephrolithiasis, Hematuria, Abnormal circulating calcium-phosphate ...	ORPHA:2196
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Con...	OMIM:157800
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Bifid scrotum, Inguinal hernia, Palpebral edema, Periorbital e...	ORPHA:363659
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Laryngeal Abductor Paralysis	Laryngomalacia	ORPHA:2808
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Smith-Kingsmore Syndrome	Smooth philtrum, Curly hair, Thin upper lip vermilion, Diastasis recti, Cryptorchidism, Wide mout...	OMIM:616638
Branchiooculofacial Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Renal cyst, Gastroesophageal reflux, Clino...	OMIM:113620
Fetal Trimethadione Syndrome	Atrial septal defect, Epicanthus, Hypospadias, Ventricular septal defect, Synophrys, High palate,...	ORPHA:1913
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi...	ORPHA:1475
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep...	ORPHA:227982
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Doors Syndrome	Adrenal hyperplasia, Polyhydramnios, Abnormal finger morphology, Nephrocalcinosis, High palate, G...	ORPHA:79500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Highly arched eyebrow, Cleft palate, Downturned corners of mouth, Ecto...	ORPHA:94066
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna...	OMIM:224410
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Patent ductus arteriosus, Deep philtrum, Narrow palpebral fissure, Aortic root an...	ORPHA:404443
Tetrasomy 9P	Myositis, Glue ear, Short neck, Micrognathia, Biliary atresia, High palate, Clinodactyly of the 5...	ORPHA:3310
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Ankyloblepharon, Conjunctivitis, Widely spaced teeth, Mi...	OMIM:106260
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Cryptorchidism, Rhiz...	ORPHA:163654
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Abnormality of the pancreas, Narrow palate, Cleft palate, Anterior...	ORPHA:1555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pyloric stenosi...	OMIM:218350
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal salivary...	ORPHA:2363
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Sensorineural hearing impairm...	OMIM:154230
Bifid Nose With Or Without Anorectal And Renal Anomalies	Posteriorly rotated ears, Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anterior...	OMIM:608980
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Crypt...	OMIM:616331
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Short neck, Bowing of the legs, Abnormal ...	OMIM:200600
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Hypopla...	OMIM:118450
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Tyshchenko Syndrome	Ventricular septal defect, Thick hair, Supernumerary nipple, Polyhydramnios, Cryptorchidism, High...	OMIM:615102
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Metaphyseal widening, High palate, Gastroesophageal reflux, Cl...	OMIM:620083
Branchioskeletogenital Syndrome	Synophrys, Anteriorly placed anus, Downturned corners of mouth, Eyelid coloboma, Short philtrum, ...	ORPHA:1299
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera...	ORPHA:96179
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Ileal atresia, Patent ductus arteriosus, Peritonitis, Megacysti...	OMIM:619351
Moebius Syndrome	Short neck, Micrognathia, Congenital fibrosis of extraocular muscles, High palate, Lower limb und...	OMIM:157900
Bladder Exstrophy	Omphalocele, Hypoplasia of penis, Inguinal hernia, Recurrent urinary tract infections, Intestinal...	ORPHA:93930
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Conductive hearing impairment, Chronic otitis m...	OMIM:244400
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Lacrimal duct stenosis, Intestinal pseudo-obstruction, Sparse eyebr...	ORPHA:73246
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Tented upper lip vermilion, Bicuspid aortic valve, Deep philtrum, Flexion contracture, Low anteri...	OMIM:619720
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypopla...	ORPHA:2604
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Telecanthus, Epicanthus, Cryptorchidism, High, narrow palate, Recurrent...	OMIM:612513
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Polyhydramnios, T lymphocytopenia, Narrow greater sciatic n...	ORPHA:508533
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Diabetes mellitus, Proteinuria, Abnormal renal medulla...	ORPHA:439232
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Patent du...	OMIM:618330
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia	ORPHA:2140
Aymé-Gripp Syndrome	Inguinal hernia, Proteinuria, Posteriorly rotated ears, Craniosynostosis, Tapered finger, Rocker ...	ORPHA:1272
Distal Deletion 9P	Low-set, posteriorly rotated ears, Hypospadias, Short neck, High, narrow palate, Aplasia/Hypoplas...	ORPHA:1642
Au-Kline Syndrome	High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Vesicoureteral reflux, Bifi...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, Protruding ear, Low posterior hairli...	OMIM:156200
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Joint stiffnes...	OMIM:609069
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Orofacial cleft, Abnormal tricuspid...	ORPHA:7
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Stillbirth, Anal atresia	OMIM:276950
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Microcytic anemia, Mic...	OMIM:600462
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Posteriorly r...	ORPHA:163979
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Thrombocytopenia, ...	OMIM:277380
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Edema, Polyhydramnios, Hydrops fetalis, Abnormal calcification of the carp...	ORPHA:51608
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Eosinophi...	OMIM:616651
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vesicoureteral ref...	OMIM:610443
17Q24.2 Microdeletion Syndrome	Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Up...	ORPHA:529962
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Atrial septal defect, Inguinal hernia, Tented upper lip verm...	OMIM:615582
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis	OMIM:187760
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Polyhydramnios, Splenomegaly, Osteopetrosis, Reduced renal corticomedullary differe...	OMIM:618541
Witteveen-Kolk Syndrome	Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place...	OMIM:613406
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Renal hypoplasia, Spinal dysraphis...	OMIM:617660
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Hig...	ORPHA:404440
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c...	OMIM:300555
Noonan Syndrome 5	Curly hair, Epicanthus, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Fine hair, Wide mouth, Th...	OMIM:611553
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Sandal gap, Tapered finger, Small hand, Cleft palate, Short foot, Micro...	OMIM:618089
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylg...	OMIM:557000
Diets-Jongmans Syndrome	Inguinal hernia, Hypospadias, Polyhydramnios, Congenital diaphragmatic hernia, Cryptorchidism, Du...	OMIM:618846
Vascular Malformation, Primary Intraosseous	Diastasis recti, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia, Umbilical hernia	OMIM:606893
Vici Syndrome	Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, At...	OMIM:242840
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hepatic s...	ORPHA:93111
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Martin-Probst Syndrome	Bifid scrotum, Epicanthus, Telecanthus, Pancytopenia, Renal insufficiency, Proteinuria, Cryptorch...	OMIM:300519
Classical-Like Ehlers-Danlos Syndrome Type 2	Widened atrophic scar, Prominent veins on trunk, High palate, Periodontitis, Premature loss of te...	ORPHA:536532
Seckel Syndrome 9	Recurrent respiratory infections, Recurrent urinary tract infections, Polyhydramnios, Micrognathi...	OMIM:616777
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob...	OMIM:300946
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Periodontit...	ORPHA:1775
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Spina bifida, High, narrow palate, Synophrys, Elb...	OMIM:613776
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Cl...	ORPHA:2554
Frontometaphyseal Dysplasia	Subglottic stenosis, Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureter...	ORPHA:1826
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S...	ORPHA:1772
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Xq21 Microdeletion Syndrome	Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit...	ORPHA:1435
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Microtia, Hypogonadotropic hypogonadism, Micrognathia	ORPHA:939
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment...	ORPHA:1131
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Oligohydramnios	OMIM:619053
Aspergillosis	Sinusitis, Pneumonia, Eosinophilia, Abnormality of the kidney, Dacryocystitis, Hypersensitivity p...	ORPHA:1163
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Inguinal hernia, Abnormal vocal cord morphology, Biliary tract abnormality, Membranou...	ORPHA:3191
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal...	OMIM:613320
Hydrolethalus	Tracheal atresia, Polyhydramnios, Cryptorchidism, Submucous cleft hard palate, Anencephaly, Cleft...	ORPHA:2189
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Ventricular septal defect, Pulmonary hypoplasia, Long philtrum, Ambiguous genitalia	OMIM:617895
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Ring Chromosome 12 Syndrome	Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, High, narrow palate, Glandular hyposp...	ORPHA:1439
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Limb joint contracture, Arachnodactyly, ...	ORPHA:505237
Scarf Syndrome	Bifid scrotum, Epicanthus, Inguinal hernia, Diastasis recti, Cryptorchidism, Low anterior hairlin...	OMIM:312830
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short phi...	ORPHA:261190
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Polyhydramnios, Short neck, Hypoplast...	OMIM:187600
Gapo Syndrome	Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Abnormal cerebral vascula...	ORPHA:2067
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, High palate, Multicystic kidney dysplasia, Sparse eyebrow, Narrow mouth, Smooth p...	ORPHA:261349
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Pulmonary valve atresia, Orofacial c...	ORPHA:97360
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Renal hypoplasi...	ORPHA:2570
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Int...	OMIM:130080
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Cutis laxa, Emphysema	OMIM:614100
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Distal Deletion 19P	Alopecia, Vaginal hernia, Ventricular septal defect, Cleft palate, Keloids, Short philtrum, Tricu...	ORPHA:96129
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Micrognathia, High, narrow ...	OMIM:208150
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Schilbach-Rott Syndrome	Posteriorly rotated ears, Hypospadias, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous clef...	OMIM:164220
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Epicanthus, Inguinal hernia, Ventr...	ORPHA:2962
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Short metatarsal, Abnormal earlobe morphology, Cleft palate, M...	ORPHA:217017
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Unilateral cryptorchidism, Polyhydramnios, Increased nuchal translucenc...	OMIM:618862
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Exocrine pancreatic insufficiency, Primary adrenal insuffici...	OMIM:269200
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Anotia, Conduct...	OMIM:164210
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT, Flexion contr...	ORPHA:333
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Genu valgum, M...	OMIM:617798
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Hearing impairment	ORPHA:438134
Craniofacioskeletal Syndrome	Absent gallbladder, Posteriorly rotated ears, Hypospadias, Micrognathia, Cryptorchidism, Small ha...	OMIM:300712
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Epicanthus, Renal insufficiency, Hypogonadotropic hypogonadism, Ventricular...	OMIM:617159
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splen...	ORPHA:217085
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Polyhydramn...	OMIM:300998
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Dehydration, Oligosacchariduria, Nephrocalci...	ORPHA:534
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Micrognathia, Tapered finger, Microtia, Low-set ears, Retrognathia	ORPHA:171829
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog...	ORPHA:226313
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele...	OMIM:266810
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Epispadias, High, narrow palate, Abnormality of the gingiva, Downturned corn...	ORPHA:3107
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Edema, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Enterocol...	ORPHA:90051
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hy...	ORPHA:367
Okamoto Syndrome	Redundant neck skin, Urinary incontinence, Gastroesophageal reflux, Exaggerated median tongue fur...	ORPHA:2729
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
3Mc Syndrome 3	Bifid scrotum, Abnormal pinna morphology, Diastasis recti, Cryptorchidism, Clinodactyly, Preaxial...	OMIM:248340
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Neu-Laxova Syndrome 1	Polyhydramnios, Short neck, Micrognathia, Micromelia, Calcaneovalgus deformity, Neonatal death, F...	OMIM:256520
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg...	ORPHA:235
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Inguinal hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Splen...	ORPHA:217093
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Dilation of Virchow-Robin spaces, Thin upper l...	OMIM:301069
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom...	ORPHA:824
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami	OMIM:141300
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut...	OMIM:269700
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Iniencephaly	Encephalocele, Omphalocele, Renal agenesis, Rocker bottom foot, Spina bifida, Polyhydramnios, Con...	ORPHA:63259
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Abnormal femur morphology, Abnormality of the neck, Ecchymosis, Pericar...	ORPHA:464329
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Pulmonary cyst, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Synophrys, High palate, Widely spaced teeth, Atrial septal defect, Microdo...	OMIM:612474
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Neonatal death, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydromye...	OMIM:308205
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,...	OMIM:618624
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylgluta...	OMIM:246450
Achondrogenesis, Type Ib	Inguinal hernia, Polyhydramnios, Edema, Hydrops fetalis, Umbilical hernia	OMIM:600972
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Sparse eyelashes, Hoode...	OMIM:612863
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur...	OMIM:616266
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Dysuria, Hashimoto thyroiditis, ...	ORPHA:49041
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometroc...	OMIM:236700
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Genitopatellar Syndrome	Small scrotum, Polyhydramnios, Knee flexion contracture, Anteriorly placed anus, Atrial septal de...	OMIM:606170
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioact...	ORPHA:90673
8p23.1 deletion syndrome	Cryptorchidism, Congenital diaphragmatic hernia	DECIPHER:39
Cantú Syndrome	Epicanthus, Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Patent ductus arterio...	ORPHA:1517
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata...	ORPHA:95715
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the neck, Abnormality ...	ORPHA:1606
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Inguinal hernia, Spontaneous neonatal pneumothorax, Frontal open bite, G...	OMIM:225410
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Entropion, Decreased response to growth hormone stimulation tes...	OMIM:616835
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Unilateral r...	ORPHA:2237
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema, Precocious puberty, Cryptorchidism, Rhabdomyosarcoma, Renal transitiona...	ORPHA:2874
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Intraute...	OMIM:617914
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Narrow mouth, Esophageal str...	OMIM:226600
Mmep Syndrome	Cryptorchidism, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Postaxial hand polydactyly, Horseshoe kidney	OMIM:617406
Oculopharyngodistal Myopathy	Abnormal morphology of musculature of pharynx, Oral-pharyngeal dysphagia, High, narrow palate, Bo...	ORPHA:98897
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypoplasia of the...	OMIM:129900
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Epicanthus, Cholelithiasis, Precocious puberty, Cleft lip, Synophrys, Cleft palate,...	OMIM:301066
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopi...	ORPHA:2476
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Elevated urinary norepinephrine level, Paroxy...	ORPHA:94080
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia, Gastroesophageal reflux	OMIM:618158
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Ectropion, Renal duplication, Polyhydramnios, Oral mucosal b...	ORPHA:79403
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Ventricular septal defect, Sparse eyelashes, ...	ORPHA:1071
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Cryptorchidism...	OMIM:179613
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Abnormal cerebral vascular morphology, Microdontia, Precocious ...	ORPHA:2637
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Sensorineural h...	OMIM:613159
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical hernia, Hirsutism, Elevated hepatic tr...	OMIM:608594
Fraser-Like Syndrome	Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd f...	OMIM:229230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Elbow flexion contracture	ORPHA:93360
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Hypospadias, Joint stiffness, Aplasia/Hypoplasi...	ORPHA:1548
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, Pallor, Thrombocytopenia	ORPHA:49827
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation ...	ORPHA:96182
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Microtia, Thickened helices, Broad thumb	ORPHA:261295
Teebi-Shaltout Syndrome	Telecanthus, Ureteral stenosis, Ventricular septal defect, Slow-growing hair, Highly arched eyebr...	OMIM:272950
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Congenital hip dislocation, Abnormal de...	ORPHA:1458
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Gen...	ORPHA:581
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Gapo Syndrome	Prominent scalp veins, Epicanthus, Alopecia, Sparse eyelashes, Hepatomegaly, Sparse eyebrow, Reti...	OMIM:230740
3Mc Syndrome	Telecanthus, Diastasis recti, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidi...	ORPHA:293843
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Abnormal hair patt...	ORPHA:178303
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ...	OMIM:619472
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Proximal placement of thumb, Hypothyroidism, Hepatomegaly, Facial pal...	ORPHA:456312
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Hernia, Aspiration pneumonia, Hepatoblastoma,...	ORPHA:1465
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Tolchin-Le Caignec Syndrome	Hooded eyelid, Diastasis recti, Precocious puberty, Submucous cleft hard palate, Hirsutism, Nasol...	OMIM:618971
Marshall-Smith Syndrome	Irregular dentition, Brittle hair, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, G...	OMIM:602535
Radio-Tartaglia Syndrome	Dental crowding, High, narrow palate, Synophrys, Low anterior hairline, High palate, Gastroesopha...	OMIM:619312
Myhre Syndrome	External genital hypoplasia, Epispadias, Bifid uvula, Abnormal penis morphology, Hypospadias, Fem...	ORPHA:2588
Microphthalmia, Syndromic 6	Small scrotum, Uplifted earlobe, Adrenal hypoplasia, Micrognathia, Protruding ear, High palate, C...	OMIM:607932
15q26 overgrowth syndrome	Mandibular prognathia, Short neck, Micrognathia, Abnormal finger morphology, High palate, Vesicou...	DECIPHER:81
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Protruding ear...	ORPHA:500150
Charge Syndrome	Bifid scrotum, Polyhydramnios, Abnormal tibia morphology, Hypoplasia of the semicircular canal, G...	ORPHA:138
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Polyhydramnios, Short nec...	OMIM:601803
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Tongue fascicu...	OMIM:253300
Orofaciodigital Syndrome Xix	Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posteri...	OMIM:620107
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Abnormality of the dentiti...	OMIM:618529
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Micrognathia, Cleft palate, Microtia, Conductive hearing impa...	ORPHA:398156
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co...	OMIM:300166
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Thrombocytope...	ORPHA:261323
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjunctival i...	ORPHA:53035
Kleefstra Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Synophrys, Renal cyst, Do...	ORPHA:261494
Immunodeficiency 9	Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Microtia, Multiple...	ORPHA:2728
3Mc Syndrome 2	Torticollis, Prominence of the premaxilla, Hypospadias, Diastasis recti, Craniosynostosis, Limite...	OMIM:265050
Catel-Manzke Syndrome	Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cryp...	OMIM:616145
Noonan Syndrome 7	Curly hair, Epicanthus, Low posterior hairline, Impaired oropharyngeal swallow response, Thick ve...	OMIM:613706
Silver-Russell Syndrome Due To 11P15 Microduplication	Umbilical hernia, Oligohydramnios	ORPHA:231144
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Submucous cleft hard palate, Supernum...	OMIM:617412
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Epicanthus, Inguinal hernia, Abnormal mitral valve morphology, Wide mouth, Long philtrum, Atrial ...	ORPHA:1292
9P13 Microdeletion Syndrome	Epicanthus, External genital hypoplasia, Highly arched eyebrow, Precocious puberty, High palate, ...	ORPHA:324313
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Congenital Tracheal Stenosis	Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun...	ORPHA:141127
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate,...	OMIM:268300
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Rhizomelic Limb Shortening With Dysmorphic Features	Downslanted palpebral fissures, Laryngomalacia, Long philtrum, Stage 1 chronic kidney disease, Pa...	OMIM:618821
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Jejunal Atresia	Jejunal atresia	OMIM:243600
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Paganini-Miozzo Syndrome	Mandibular prognathia, Posteriorly rotated ears, Urinary incontinence, Microtia, Low-set ears	OMIM:301025
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Micrognathia, Metaphyse...	OMIM:250410
Schwartz-Jampel Syndrome	Polyhydramnios, Low anterior hairline, High palate, Wrist flexion contracture, Generalized hirsut...	ORPHA:800
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Toe syndactyly, Abnormality of female external genitalia, Campt...	ORPHA:920
Thanatophoric Dysplasia Type 1	Brachydactyly, Short femur, Bowing of the long bones, Abnormality of the kidney, Polyhydramnios, ...	ORPHA:1860
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Leukopenia, Macrovesicular hepatic steatos...	OMIM:617303
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Increased ser...	ORPHA:96181
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hepatome...	OMIM:301056
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat...	OMIM:618651
Trigonocephaly With Short Stature And Developmental Delay	Epicanthus, Inguinal hernia, Ventricular septal defect, High palate, Broad alveolar ridges	OMIM:314320
Zellweger Syndrome	Hepatomegaly, Epicanthus, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, M...	ORPHA:912
Orofaciodigital Syndrome Viii	Telecanthus, Median cleft lip, Cleft palate, High palate, Hypoplasia of the epiglottis, Recurrent...	OMIM:300484
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,...	ORPHA:1263
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Polyhydramnios, Micrognathia, Gastroesophageal reflux, Severe sensorineural heari...	OMIM:620186
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sensorineural ...	ORPHA:95513
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, High palate, Bone marrow hypocellularity, Neutropenia, Umbilica...	OMIM:614520
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Reduced bone mineral density, Abnormal pelvic girdle bone morp...	ORPHA:2370
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Inguinal hernia, Posteriorly rotated ears, Down-sloping shoulders, ...	OMIM:227330
Kaufman Oculocerebrofacial Syndrome	High palate, Atrial septal defect, Sparse hair, Sparse eyebrow, Diastema, Narrow mouth, Smooth ph...	OMIM:244450
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypoplasia of the...	OMIM:604292
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,...	OMIM:615234
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Short femur, Polyhydramnios, Bowing of the l...	OMIM:100800
Netherton Syndrome	Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Brittle hair, Spars...	OMIM:256500
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth...	OMIM:601358
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di...	ORPHA:563609
Bencze Syndrome	Telecanthus, Open bite, Submucous cleft hard palate, Extension of hair growth on temples to later...	ORPHA:1241
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Epicanthus, Inguinal hernia, Ventricular septal defect, Broad secondary alveolar ridge, High palate	ORPHA:3369
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sensorineural ...	ORPHA:95512
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Pulsatile tinnitus, E...	ORPHA:276621
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter...	OMIM:611376
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Everted lower l...	OMIM:249670
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Facial hypotonia, Unilateral renal agenesis, Postaxial polydactyly...	ORPHA:457284
Smith-Magenis Syndrome	Everted upper lip vermilion, Abnormality of the dentition, Abnormality of the thyroid gland, Syno...	OMIM:182290
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Epicanthus, Ventricu...	OMIM:220500
Adnp Syndrome	Urinary incontinence, Oral-pharyngeal dysphagia, Abnormal finger morphology, Protruding ear, Gast...	ORPHA:404448
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Microtia, Low-set ears, Clinodactyly	ORPHA:357175
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Mucolipidosis Type Ii	Hip contracture, Epicanthus, Inguinal hernia, Abnormal mitral valve morphology, Diastasis recti, ...	ORPHA:576
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia, Polyhydram...	ORPHA:3346
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Inguinal hernia, Hypospadias, Ventricular septal defect, Tented upper lip vermilion, ...	OMIM:616449
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Cryptorchidism, Unilateral renal agenesis, Hearing impairment	OMIM:620024
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Sinusitis, Abnormal hair mor...	OMIM:208900
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Cleft palate, Microtia, Atresia of the external auditory canal, Triphalang...	OMIM:141400
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Craniosynostosis, Micrognathia	ORPHA:1064
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Microsporidiosis	Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parathyroid gla...	ORPHA:2552
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Delayed ...	OMIM:611717
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Bicuspid pulmonary valve, Clitoral hypoplasia, Abnormal pul...	ORPHA:709
Cohen Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Mitral valve prolapse...	OMIM:216550
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Telecanthus, Ventricular septal defect, Abnormal localization of kidney, Abnormal cardiac septum ...	ORPHA:83473
Diphallia	Bifid scrotum, Ureteral duplication, Epispadias, Ectopic scrotum, Duplicated colon, Atrial septal...	ORPHA:227
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Edema, Minimal change glomer...	OMIM:618348
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Polyhydramnios, Abnormality of the urethra, Scarring alopecia of scalp, Flexion ...	ORPHA:158684
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu...	ORPHA:99050
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Cryp...	OMIM:620025
Coenzyme Q10 Deficiency, Primary, 7	Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Dysphagi...	OMIM:616276
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Hepatomegaly, Split hand, Flat acetabular roof, F...	OMIM:252500
Hereditary Hyperekplexia	Hiatus hernia, Gastroesophageal reflux, Esophagitis, Hernia, Umbilical hernia	ORPHA:3197
White-Sutton Syndrome	Joint laxity, Duplicated collecting system, Abnormality of the gastrointestinal tract, Ventral he...	ORPHA:468678
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Atrial septal defect, Long philtrum, Scarring, Hiatus hernia, Cryptorchidism, Nephro...	OMIM:601776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Ventricular septal defect, Nephroblastoma, Hernia, Leukemia, Downslanted palpebral fi...	OMIM:602501
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Cryptorchidism, Lower eyelid c...	OMIM:154500
Renpenning Syndrome 1	Mandibular prognathia, Hypospadias, Phimosis, Micrognathia, Macrotia, Cupped ear, Renal hypoplasi...	OMIM:309500
Lethal Congenital Contracture Syndrome 9	Polyhydramnios, Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, ...	OMIM:616503
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly, Su...	OMIM:617088
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Microtia, Low-set ears, Clinodactyly	OMIM:615162
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Dow...	OMIM:618067
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Sho...	OMIM:617360
Trichothiodystrophy	Multiple joint contractures, Brittle hair, High, narrow palate, Conjunctivitis, Neutropenia, Tige...	ORPHA:33364
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, ...	OMIM:618143
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Patent du...	OMIM:612561
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Thick lower lip vermilion, Low anterior hairline, Widely-spaced maxill...	OMIM:608227
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe...	OMIM:614262
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Diabetes mellitus, Posteriorly rotated ears,...	OMIM:614813
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio...	ORPHA:90791
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic...	ORPHA:2869
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Short neck, Micrognathia, High palate, Gastroesophageal reflux, Vesicoureteral ref...	OMIM:309580
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Multiple pterygia	OMIM:601809
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin...	ORPHA:794
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia, Laryngomalacia	OMIM:245650
Seckel Syndrome 7	Abnormal carpal morphology, Central hypothyroidism, Hypoplasia of the uterus, Hip dysplasia, Micr...	OMIM:614851
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Short neck, Cryptorchidism, Thrombocytopenia, Cholestasis, Protein-losing en...	OMIM:608104
Meier-Gorlin Syndrome 2	Clitoral hypertrophy, Abnormal pinna morphology, Micrognathia, Patellar aplasia, Hypoplastic labi...	OMIM:613800
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Smooth philtrum, Telecanthus, Hypospadias, Supernumerary nipple, Narrow mouth, Low anterior hairl...	OMIM:604314
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft...	OMIM:618021
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Gastroesophageal reflux, Prominent finger...	OMIM:619950
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Brittle hair, Ventricular septal defect, Abnormal dental enamel morpholog...	ORPHA:2710
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Gastroesopha...	OMIM:619426
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Inguinal hernia, Cryptorchidism, Dental malocclusion, Narrow palate, Mitral valve pr...	OMIM:182212
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Omphalocel...	ORPHA:2484
Neurodevelopmental Disorder With Spasticity And Poor Growth	Recurrent respiratory infections, High, narrow palate, Achilles tendon contracture, Knee flexion ...	OMIM:618076
Auriculocondylar Syndrome 3	Glossoptosis, Laryngeal cleft, Bifid uvula, Ectropion	OMIM:615706
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu...	OMIM:618223
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap...	ORPHA:2167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Short neck, Micrognathia, Retrognathia, Narrow palate, Hypoplasia of teeth, Micro...	OMIM:620250
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Bicuspid aortic valve, Synophrys, Low anterior hairline, Downturned corners of mou...	OMIM:610759
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,...	ORPHA:90291
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios, Pulmonary hypoplasia, Ambiguous g...	OMIM:615503
Desmosterolosis	Epicanthus, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Paten...	ORPHA:35107
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sensorineural ...	ORPHA:91355
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Atrial septal defect, Spina bifida occul...	OMIM:257920
Campomelic Dysplasia	Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h...	OMIM:114290
3Q29 Microdeletion Syndrome	Hypospadias, Tapered finger, Horseshoe kidney, Joint hyperflexibility, High palate, Gastroesophag...	ORPHA:65286
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Hiatus hernia, Micrognathia, Nephrotic syndrome, Hypoplasia...	ORPHA:2065
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Microphthalmia, Syndromic 1	High, narrow palate, Rectal prolapse, High palate, Prominent fingertip pads, Syndactyly, Hypospad...	OMIM:309800
Chromosome 9P Deletion Syndrome	High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, Hypospadias, H...	OMIM:158170
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Metatarsus adductus, Hypoplasia of the maxilla, Recurrent up...	ORPHA:293939
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Hypoplasia of th...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W...	OMIM:617635
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder...	OMIM:212112
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion contracture, Calf muscle...	OMIM:618733
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Small scrotum, Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Short neck, T...	OMIM:616734
Filippi Syndrome	Ventricular septal defect, Cryptorchidism, Serrated incisors, Thin vermilion border, Short philtr...	OMIM:272440
Bainbridge-Ropers Syndrome	Dental crowding, Polyhydramnios, Synophrys, Contracture of the proximal interphalangeal joint of ...	OMIM:615485
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Pedal edema, Portal hypertension, Abnormal mesentery morp...	ORPHA:284
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the...	OMIM:602588
Noonan Syndrome 4	Curly hair, Epicanthus, Ureteral duplication, Ventricular septal defect, Polyhydramnios, Sparse e...	OMIM:610733
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Tricuspid Atresia	Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao...	ORPHA:1209
Werner Syndrome	Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Thyroid ca...	ORPHA:902
Monosomy 22	Epicanthus, Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Edema, Malabsorpt...	ORPHA:2315
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Anteriorly placed anus, Downturned corners of mouth, Clitoral hypoplasia...	OMIM:616894
Recombinant 8 Syndrome	Small scrotum, Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Cle...	ORPHA:96167
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Abnormality of the dentition, Patent ductus arteriosus, Low anterior ...	ORPHA:2095
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow pala...	OMIM:180849
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Thanatophoric Dysplasia Type 2	Encephalocele, Brachydactyly, Abnormality of the kidney, Polyhydramnios, Redundant skin, Micromel...	ORPHA:93274
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, High, narrow palate	ORPHA:2181
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hypoplasia, G...	OMIM:619321
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomel...	ORPHA:50945
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt...	OMIM:249270
Sandifer Syndrome	Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Anemia	ORPHA:71272
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Weiss-Kruszka Syndrome	Hearing impairment, Proximal placement of thumb, Cupped ear, Protruding ear, Microtia, Low-set ea...	OMIM:618619
Xanthoma Disseminatum	Abnormality of the pharynx, Abnormal lip morphology, Diabetes insipidus, Abnormality of the larynx	ORPHA:158003
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism, Dexamethaso...	ORPHA:369929
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Aganglionic megacolon, Polyhydra...	ORPHA:3339
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Premature grayi...	OMIM:617341
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent...	ORPHA:284169
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h...	OMIM:180700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Redundant neck skin, Short metacarpal, Brachydactyly, Polyhyd...	OMIM:617157
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Gastroesophageal reflux, Horseshoe kidney, Dysphagia	OMIM:617664
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p...	ORPHA:884
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Sensorineural hearing impairment, Renal cys...	OMIM:615636
Myhre Syndrome	Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, ...	OMIM:139210
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone os...	ORPHA:175
Johnson Neuroectodermal Syndrome	Facial palsy, Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Microtia, H...	ORPHA:2316
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia, Malabsorption	ORPHA:99811
Noonan Syndrome 8	Curly hair, Epicanthus, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus ...	OMIM:615355
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste...	OMIM:615237
Endocrine-Cerebroosteodysplasia	Natal tooth, Small scrotum, Hypospadias, Bilateral cleft lip, Adrenal hypoplasia, Polyhydramnios,...	OMIM:612651
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Ventricular septal defect, Supernumerary n...	OMIM:613884
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia,...	ORPHA:3260
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Edema, Splenomegaly, Short toe, Leukocytosis, Thyroiditis,...	ORPHA:39041
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness...	ORPHA:1915
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Renal dysplasia, Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Polyhydram...	OMIM:300990
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Menke-Hennekam Syndrome 1	Deep philtrum, Flexion contracture, High palate, Gastroesophageal reflux, Short philtrum, Sparse ...	OMIM:618332
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam...	OMIM:260400
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Inguinal hernia, Highly arched eyebrow, Protruding tongue, ...	OMIM:617062
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Polyhydramnios, Situs inversus totalis, Velopharyngeal insuffic...	ORPHA:199302
Li-Ghorbani-Weisz-Hubshman Syndrome	Epicanthus, Telecanthus, Ventricular septal defect, Patent ductus arteriosus, Upslanted palpebral...	OMIM:618974
White Sponge Nevus 2	Edema	OMIM:615785
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Telecanthus, Ventricular septal defect, Precocious puberty, Cryptorchidism, Hirsutism, Upslanted ...	OMIM:620073
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Choanal Atresia	Subglottic stenosis, Recurrent respiratory infections, Chronic sinusitis, Laryngomalacia	ORPHA:137914
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Aganglionic megacolon, Malabsorption, Cryptorchid...	ORPHA:452
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan...	ORPHA:54251
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hydrops fetalis, Abn...	ORPHA:2123
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Dental malocclusion, P...	ORPHA:2115
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fan...	ORPHA:263455
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Ambiguous genitalia, Hypospadias, Abnormal dental enamel morphology, A...	ORPHA:2556
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Low posterior ha...	ORPHA:2345
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Pulsatile tinnitus, E...	ORPHA:29072
Orofaciodigital Syndrome Xiv	Microretrognathia, Occipital encephalocele, Natal tooth, Posteriorly rotated ears, Broad hallux, ...	OMIM:615948
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Hypospadias, Cleft soft palate, Highly arched eyebrow, Cryptorc...	ORPHA:2282
3P25.3 Microdeletion Syndrome	Atrial septal defect, Epicanthus, Thin upper lip vermilion, Ventricular septal defect, High, narr...	ORPHA:435638
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele tes...	ORPHA:276280
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,...	ORPHA:457279
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hy...	OMIM:271520
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Cr...	OMIM:300963
Mucopolysaccharidosis Type 2	Otosclerosis, Hepatomegaly, Inguinal hernia, Conductive hearing impairment, Sensorineural hearing...	ORPHA:580
Proteus-Like Syndrome	Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Ope...	ORPHA:2969
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Hypopigmentation of hair, Malabsorption, Venous ins...	ORPHA:565
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Clitoral hypoplasia, Micropenis, R...	OMIM:268310
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Facial edema...	ORPHA:90674
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Jaundice, Leuk...	ORPHA:20
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Infection-Related Hemolytic Uremic Syndrome	Anuria, Edema, Intestinal perforation, Gastrointestinal infarctions, Pallor, Nephrotic range prot...	ORPHA:544482
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Dental crowding, Synophrys, Pate...	OMIM:617061
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stric...	OMIM:613989
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Stapes ankylosis, Hallux valgus, Mandibular prognathia, Broad hallux, ...	OMIM:614188
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Pallor, Type I diabetes mellitus, Excessive insulin response to g...	ORPHA:276575
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly...	ORPHA:290
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Tented upper lip vermilion, Exaggerated cupid's bow, Polyhydramnio...	OMIM:619833
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Ventricular septal defect, Foot joint contracture, Sparse eyebrow, Cryptorchidis...	ORPHA:444072
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period...	ORPHA:286
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglioneuromatosis, El...	ORPHA:653
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephri...	ORPHA:1830
Bohring-Opitz Syndrome	Polyhydramnios, Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Vesicoureter...	OMIM:605039
Floating-Harbor Syndrome	Glandular hypospadias, Nephrocalcinosis, Downturned corners of mouth, Short philtrum, Atrial sept...	OMIM:136140
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre...	ORPHA:85450
Cardiofaciocutaneous Syndrome	Brittle hair, Lymphedema, High palate, Atrial septal defect, Sparse hair, Dystrophic fingernails,...	ORPHA:1340
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Pneumonia, Carious teeth, Splenomegaly,...	OMIM:253200
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Synophrys, Downturned corners of mouth, Coarse hair, High palate...	OMIM:618268
Cleidocranial Dysplasia	Mandibular prognathia, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hypoplastic in...	ORPHA:1452
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena...	OMIM:613390
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis, Proteinur...	ORPHA:1018
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Pallor, Poik...	OMIM:300908
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Polyhydramnios, Micrognathia, Short metatarsal, ...	OMIM:216340
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Epicanthus, Hypospadias, Ventricular septal defect, Precocious puberty, Crypto...	ORPHA:254346
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Decrea...	ORPHA:300298
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Type I diabetes mellitus, Pallor, Hyperinsulin...	ORPHA:276580
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Short n...	OMIM:616723
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Bilate...	OMIM:619234
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Patellar aplasia, Slender long bone, Mic...	OMIM:613804
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Pancreatitis, Recurrent upper respiratory tract infections	OMIM:620137
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Cleft soft palate, Cryptorchidism, Downslanted palpebral fissures, Pt...	OMIM:606851
Hennekam-Beemer Syndrome	Camptodactyly of finger, Mastocytosis, Micrognathia, Pneumonia, Erythema, Skin vesicle, Microtia,...	ORPHA:2135
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Double outl...	OMIM:618164
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Lymphedema-Distichiasis Syndrome	Ptosis, Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis...	OMIM:153400
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Esophageal str...	OMIM:224230
Limb Body Wall Complex	Encephalocele, Ventral hernia, Duplication of hand bones, Broad hallux, Abnormality of the kidney...	ORPHA:2369
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Epicanthus, Ventricular septal defect, Patent ductus arteriosus, Increased ...	OMIM:615668
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Hemolytic a...	OMIM:619487
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Bilateral cryptorchidism, Knee flexion contracture, Nephrocalcinosis, High palat...	OMIM:617402
Osteogenesis Imperfecta, Type Xiii	Generalized hirsutism, Enuresis nocturna, Thin vermilion border, Long eyelashes, Long philtrum, L...	OMIM:614856
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges ...	ORPHA:1112
Ablepharon-Macrostomia Syndrome	Redundant skin, Anteriorly placed anus, Cutaneous finger syndactyly, Clinodactyly of the 5th fing...	OMIM:200110
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Abnormality of dental color, Recurrent fractures, Precocious puber...	OMIM:163200
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, High, narrow palate, Male urethral meatus stenosis, Short philtrum, A...	ORPHA:464738
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Epispadias, Conical incisor, Atrial septal defect, Microdontia, ...	ORPHA:289
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Deep philtrum, High palate, Gastroesophageal reflux, Sparse hair, Atrial septal d...	OMIM:115150
Noonan Syndrome 2	Polyhydramnios, High palate, Atrial septal defect, Atrioventricular canal defect, Sparse eyebrow,...	OMIM:605275
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Megaloblastic anemia, Abnormality of hair texture, Hypogonadism, Gastroesophagea...	ORPHA:79351
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Arthrogryposis, Distal, Type 3	Epicanthus, Camptodactyly of finger, Cryptorchidism, Submucous cleft hard palate, Cleft palate, K...	OMIM:114300
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Hearing impairment, Down-sloping shoulders, Microgna...	ORPHA:1724
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated urine pyrophosphate, Craniosynostosis, Bowing of the l...	OMIM:241500
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso...	ORPHA:264580
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Atrial septal defect, Recurrent respiratory infections, Thyroid hypoplasia, A...	ORPHA:3047
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal...	ORPHA:2635
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cryptorchidism, Narrow mouth, Sparse hair, Umbilical hernia	OMIM:219150
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia	OMIM:304700
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Shprintzen-Goldberg Syndrome	Telecanthus, Inguinal hernia, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Aplas...	ORPHA:2462
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplasia o...	ORPHA:1512
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal...	ORPHA:974
Skraban-Deardorff Syndrome	Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch, Widely spaced tee...	OMIM:617616
Birk-Barel Syndrome	Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Highly arched eyebrow, High pala...	OMIM:612292
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Short neck, Micrognathia, Abnormal finger morphology, Short palm, Large i...	ORPHA:2636
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Split hand, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Protruding ear, Bifid uvula, Tapered finge...	OMIM:613458
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Neurodegeneration And Seizures Due To Copper Transport Defect	Thickened nuchal skin fold, Short femur, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasi...	OMIM:620306
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anterior hairline,...	OMIM:614976
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Ventr...	OMIM:608670
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Coffin-Siris Syndrome 7	Sparse scalp hair, Epicanthus, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septa...	OMIM:618027
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o...	OMIM:309350
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Kury-Isidor Syndrome	Alopecia, Tented upper lip vermilion, Ventricular septal defect, Hypertrichosis, High palate, Wid...	OMIM:619762
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia...	ORPHA:98849
King-Denborough Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Bilateral ptosis, Cryptorchidism, Deep philt...	OMIM:619542
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium, Premature loss of teeth, Alopec...	OMIM:305000
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine...	OMIM:260370
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Pallor, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test,...	ORPHA:276556
Isotretinoin Syndrome	Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality of the outer ear	ORPHA:2305
Meester-Loeys Syndrome	Gingival overgrowth, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurys...	OMIM:300989
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia, Oral-pharyngeal dysphagia	ORPHA:99772
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Bilateral fetal pyelectasis, Incr...	OMIM:606812
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Epicanthus, Ventricular septal defect, Decreased response to growth hormone...	OMIM:614114
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Mi...	ORPHA:275761
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit...	ORPHA:261265
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Cleft palate, Ante...	OMIM:309801
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Sparse scalp hair, Smooth philtrum, Diabetes mellitus, Ventr...	OMIM:270450
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Highly arched eyebrow,...	OMIM:617452
Jacobsen Syndrome	Eyelid coloboma, Abnormality of the anus, Multicystic kidney dysplasia, Spina bifida, Cryptorchid...	ORPHA:2308
Gm1 Gangliosidosis	Hydrops fetalis, Gastroesophageal reflux, Aspiration pneumonia, Cherry red spot of the macula, Ge...	ORPHA:354
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Noonan Syndrome 9	Curly hair, Hydroureter, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Coarctation o...	OMIM:616559
C Syndrome	Omphalocele, Hepatomegaly, Epicanthus, Ventricular septal defect, Accessory oral frenulum, Crypto...	OMIM:211750
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemia, Pallor, ...	ORPHA:324575
Branchiootic Syndrome	Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t...	ORPHA:52429
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro...	OMIM:613404
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, In...	ORPHA:93
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Atrial septal defec...	OMIM:617506
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Palpebral ed...	ORPHA:2036
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cryp...	OMIM:244300
Neurooculocardiogenitourinary Syndrome	Epicanthus, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arte...	OMIM:618652
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Polyhydramnios, Facial edema, Abnormal cartilage matrix, Epiphyseal stippling, ...	ORPHA:86822
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypert...	OMIM:615688
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Craniosynostosis, Oligohydramnios, Microtia, Low-set ears, Joint hypermobility, Hearing impairment	OMIM:619056
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Myelofibrosis	Pallor, Purpura	OMIM:254450
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Broad hallux, 1-2 toe syndactyly, Tapered finger, Congenital diaphragma...	OMIM:301044
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Gastroesophageal reflux, Hypothyroidism, Simple ear, J...	OMIM:619325
Humeroradial Synostosis	Small earlobe, Renal insufficiency, Humeroradial synostosis, Microtia	OMIM:236400
Short Stature And Facioauriculothoracic Malformations	Short neck, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix	OMIM:609654
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Inguinal hernia, Polyhydramnios, Acanthocytosis, Flexion contracture, Elbow fl...	OMIM:618947
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Inguinal hernia, Widened atrophic scar, High, narrow palate, Recurrent pneumonia, Elbow flexion c...	ORPHA:1900
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi...	OMIM:602471
Rapp-Hodgkin Syndrome	Conical tooth, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip, Sparse eyebro...	OMIM:129400
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Skeletal musc...	ORPHA:90045
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Autosomal Recessive Spastic Paraplegia Type 23	Hip dislocation, Horseshoe kidney	ORPHA:101003
Mitochondrial Complex I Deficiency, Nuclear Type 16	Intrauterine growth retardation, Aplasia of the left hemidiaphragm, Adrenal insufficiency	OMIM:618238
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Polyhydramnios, Cleft palate, Laryn...	ORPHA:3374
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Lethal Congenital Contracture Syndrome 1	Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Edema	OMIM:253310
Pelviscapular Dysplasia	Brachydactyly, Redundant neck skin, Abnormal pinna morphology, Congenital hip dislocation, Short ...	ORPHA:93333
Wilson Disease	Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, ...	OMIM:277900
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Thin upper lip vermilion, Telecanthus, Laryngeal hypoplasia, Abnormal eyelash morpho...	ORPHA:3164
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, High palate, Clin...	OMIM:209885
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Recurrent fractures, Increased intestina...	OMIM:619377
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m...	ORPHA:1328
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Dermal translucency, Prominence of the premaxilla, Inguinal hernia, ...	OMIM:614437
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Short neck, Coxa valga, Large plac...	ORPHA:254519
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis	ORPHA:134
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal ...	ORPHA:79409
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt...	OMIM:166250
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ...	OMIM:601612
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Inguinal hernia, Supernumerary nipple, Widow's peak, Submucous cleft hard palate, Uni...	OMIM:619122
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Dravet Syndrome	Limited knee extension, Limited neck range of motion, Pallor, Tibial torsion	ORPHA:33069
Turnpenny-Fry Syndrome	Mandibular prognathia, Polyhydramnios, Prominent interphalangeal joints, High palate, Gastroesoph...	OMIM:618371
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Epicanthus, Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Polyhydramnios, Patent ...	OMIM:614557
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Noonan Syndrome 10	Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Patent ductus ...	OMIM:616564
Rheumatic Fever	Abnormal pleura morphology, Recurrent pharyngitis, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:3099
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Hypercalci...	OMIM:618440
Costello Syndrome	Epicanthus, Ventricular septal defect, Abnormal dental enamel morphology, Polyhydramnios, Abnorma...	ORPHA:3071
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn...	ORPHA:1352
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Sp...	ORPHA:30
Down Syndrome	Redundant neck skin, Short palm, Hypoplastic iliac wing, Conductive hearing impairment, Hypothyro...	OMIM:190685
Jacobsen Syndrome	U-Shaped upper lip vermilion, Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospad...	OMIM:147791
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Dysphagia	OMIM:619083
Weaver Syndrome	Epicanthus, Inguinal hernia, Diastasis recti, Cryptorchidism, Patent ductus arteriosus, Fine hair...	OMIM:277590
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Renotubular dysgenesis, Oligohyd...	OMIM:267430
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Inguinal hernia, Hypospadias, Bicuspid aortic valve, Patent ductus arte...	OMIM:611962
Parenti-Mignot Neurodevelopmental Syndrome	Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cupped ear, Microtia, Low-set ears	OMIM:619873
Irida Syndrome	Pallor	ORPHA:209981
American Trypanosomiasis	Periorbital edema, Pallor, Edema	ORPHA:3386
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri...	OMIM:614921
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, ...	ORPHA:440713
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bil...	OMIM:611134
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Hamartoma of tongue, Micrognathia, Macroglossia, Microti...	OMIM:619775
Sporadic Infantile Bilateral Striatal Necrosis	Pharyngitis, Urinary incontinence, Recurrent upper respiratory tract infections, Titubation, Dysp...	ORPHA:225147
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Orofaciodigital Syndrome Type 2	Central retinal vessel vascular tortuosity, High palate, Hypoplasia of the epiglottis, Atrioventr...	ORPHA:2751
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Gastroesophageal reflux, Hypoplastic left heart, Sparse hair, Laryngomalac...	OMIM:619721
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, Redundant skin, Epispadias, High, narrow pala...	ORPHA:2658
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachydactyly, Small scrotum, Posteriorly rotated ears, Rocker bottom foot, Tapered finger, Crypt...	OMIM:601353
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Ovarian fibroma, Odontogenic keratocysts of the jaw, Narro...	ORPHA:77301
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Cle...	ORPHA:3338
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Subglottic stenosis	ORPHA:319675
Schneckenbecken Dysplasia	Umbilical hernia, Polyhydramnios, Nonimmune hydrops fetalis, Cleft palate	OMIM:269250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the gingiva...	ORPHA:285
Joubert Syndrome 14	Encephalocele, Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Highly arched e...	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Meningoencephalocele, Cryptorchidism, Cleft palate, Congen...	OMIM:236670
Char Syndrome	Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti...	ORPHA:46627
Chromosome 1P36 Deletion Syndrome, Proximal	Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal def...	OMIM:619343
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, La...	OMIM:618797
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypospadias, Cryptorchidism, 3-Methylglutaconic aciduria, Long philtrum, Umbilic...	OMIM:614052
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Classical Ehlers-Danlos Syndrome	Incisional hernia, Rectal prolapse, Gastroesophageal reflux, Hiatus hernia, Cigarette-paper scars...	ORPHA:287
Rabson-Mendenhall Syndrome	Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Neph...	ORPHA:769
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Ventricular septal defect, Cryptorchidism, Vesicoureteral reflux, Abnorm...	ORPHA:494344
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Abnormal lung lobation, Atrial septal defect, Stomach cancer, Hypothyroidism, Int...	ORPHA:1052
Microcephaly 13, Primary, Autosomal Recessive	Subglottic stenosis, Restrictive cardiomyopathy	OMIM:616051
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal...	ORPHA:100050
Ogden Syndrome	Inguinal hernia, Everted upper lip vermilion, Ventricular septal defect, Cryptorchidism, Pulmonar...	ORPHA:276432
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow	ORPHA:209908
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Cryptorchidism...	ORPHA:1101
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Thin upper lip vermilion, Epicanthus, Telecanthus, Small scrotum, Ventricular septal defect, Recu...	OMIM:620330
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Subglottic stenosis, Abnormality of the dentition, Neutropenia, Congenital hypothyroidism, Short ...	OMIM:271510
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Polyhydramnios, Gastroesophageal reflux, Atrial septal defect, Hypospadias, Cryptorchidism, Pulmo...	ORPHA:459070
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th...	ORPHA:847
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Intestinal polyposis, Gastrointestinal hemorrhage, Peripheral arteri...	ORPHA:774
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia	OMIM:617662
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Esophageal stenosis, Aplastic anemia, Abnormality of the dentition, Bone marrow hyp...	OMIM:616553
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Distal Duplication 5Q	Epicanthus, Hypospadias, Ventricular septal defect, Dextrocardia, Carious teeth, Cryptorchidism, ...	ORPHA:96097
Orofaciodigital Syndrome Ix	Telecanthus, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palat...	OMIM:258865
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Small Bowel Atresia	Abnormal vascular morphology, Jejunal atresia, Intestinal malrotation, Intestinal hypoplasia	ORPHA:1201
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria...	OMIM:619534
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion contracture, ...	OMIM:613870
Auriculocondylar Syndrome	Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Abnormal pinna mor...	ORPHA:137888
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p...	OMIM:300967
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Elevated...	OMIM:618500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Double outlet...	ORPHA:371428
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Ventricular septal defect, Supernum...	ORPHA:217346
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Ventricular septal defect	OMIM:616816
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Epicanthus, Natal tooth, Ventricular septal defect, Sparse eyelashes, Proteinu...	OMIM:616901
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Abnormality of the tongue, Aspiration pneumonia, Dysphagia	ORPHA:216866
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Abnormal preputium morphology, Glandular hypospadias, Short philtrum, Blepharo...	ORPHA:293725
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Pedal edema, Gastroesophageal ...	ORPHA:821
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Dilated car...	ORPHA:89842
Colonic Atresia	Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve...	ORPHA:1198
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Stage 3 chronic kidney disease, Thrombocytopenia, Genu varum, Type 2 mus...	OMIM:619743
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Neuroocular Syndrome	Brittle hair, Synophrys, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Paten...	OMIM:619539
Microcephaly-Capillary Malformation Syndrome	Ptosis, Ventricular septal defect, Abnormal hair whorl, Vesicoureteral reflux, Cleft palate, Atri...	OMIM:614261
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min...	OMIM:617052
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Submucous cleft hard palate, Bifid uvula, Pulmonic stenosis	OMIM:619239
Omodysplasia 1	Atrial septal defect, Epicanthus, Ventricular septal defect, Cryptorchidism, Pulmonary artery ste...	OMIM:258315
Kniest Dysplasia	Hip contracture, Umbilical hernia, Inguinal hernia, Cleft palate	OMIM:156550
Multiple Epiphyseal Dysplasia, Lowry Type	Upslanted palpebral fissure, Cleft hard palate, Knee flexion contracture	ORPHA:166016
Chime Syndrome	Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phal...	ORPHA:3474
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Hyperthyroidism, Micrognathia, Multiple lipomas, Distal amyotrophy, High p...	OMIM:617675
Dubowitz Syndrome	Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Hypospadias, Inguinal hernia, Aplasti...	OMIM:223370
Parietal Foramina With Cleidocranial Dysplasia	Microtia, Short clavicles	OMIM:168550
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Cleft palate, Low posterior hairline	OMIM:214300
Sponastrime Dysplasia	Subglottic stenosis, Epicanthus, Hypospadias, Precocious puberty, Recurrent pneumonia, Short dent...	ORPHA:93357
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Upslanted...	OMIM:616652
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Elbow flexion contracture, Tooth malposition...	OMIM:608328
Short Stature-Micrognathia Syndrome	Small scrotum, Ventricular septal defect, Cryptorchidism, Cleft palate, High palate, Gastroesopha...	OMIM:617164
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Lipodystrophy, Flexion contracture, ...	ORPHA:86309
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Stenosis of the external auditory can...	OMIM:619699
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased ...	OMIM:614592
Monosomy 22Q13.3	Renal dysplasia, Epicanthus, Palpebral edema, Dental crowding, Lymphedema, Dental malocclusion, L...	ORPHA:48652
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Polyhydramnios, Tapered finger, ...	OMIM:613603
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Inguinal hernia, Unilateral cryptorchidism, Ventricular septal defect, Anterior pitui...	OMIM:613457
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Tented upper lip vermilion, Ventricular ...	OMIM:615673
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Thick hair, Abnormal eyelid morpholo...	ORPHA:193
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L...	ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig...	OMIM:618106
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum	OMIM:620393
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of...	ORPHA:52
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Overfolding of the superior helices, Natal tooth, Extramedullary hematopoiesis, Clito...	ORPHA:313855
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Aneurysm-Osteoarthritis Syndrome	High palate, Bifid uvula, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arteriosu...	ORPHA:284984
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo...	ORPHA:2879
Wrinkly Skin Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Epicanthus, Inguinal hernia, Lipod...	ORPHA:2834
Native American Myopathy	Bilateral ptosis, Cryptorchidism, Cleft palate, Downturned corners of mouth, Congenital contractu...	ORPHA:168572
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Sparse eyebrow, Cryptorchidism, Patent duct...	OMIM:117550
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c...	OMIM:600920
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Synophrys, Long eyelashes, Gastroesophagea...	OMIM:614961
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Recurrent urinary tract infections, Pneumonia, Highly arched eyebrow, Hepatosplenom...	ORPHA:309282
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Ventricular septal defect, Downturned corners of mouth, Short philtrum, Ambiguous ge...	ORPHA:93267
Aase-Smith Syndrome I	Ventricular septal defect, Flexion contracture, Cleft palate, Open mouth, Ptosis	OMIM:147800
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Inc...	ORPHA:77259
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Cryptor...	ORPHA:261250
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Atrial septal defect, Epicanthus, Multicystic kidney dysplasia, Hypospadias, Nephr...	OMIM:257300
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Synophrys, Deep philtrum, Downturned corners of mouth, Neutropenia, Vesicour...	ORPHA:163956
Faciocardiorenal Syndrome	Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f...	ORPHA:1973
Gaisböck Syndrome	Diabetes mellitus, Peptic ulcer, Splenomegaly, Vertigo, Increased mean corpuscular hemoglobin con...	ORPHA:90041
Chanarin-Dorfman Syndrome	Hepatomegaly, Sensorineural hearing impairment, Myopathy, Microtia, Hepatic steatosis	OMIM:275630
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Hepatomegaly, Severe B lymphocytopenia, ...	OMIM:102700
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Smooth philtrum, Ventricular septal defect, Synophrys, Patent duct...	OMIM:620113
Endove Syndrome, Limb-Only Type	Hypoplastic labia majora, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Hypochromic microcytic ane...	ORPHA:54028
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Umbilical hernia, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Maternal diabetes, Panhypopituit...	ORPHA:280200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, External genital hypoplasia, High palate, Short philtrum, Sparse hair, Microdont...	ORPHA:251028
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Rhizomelia, Postaxial polydactyly, Short neck, Edema, Polyhydramnios, ...	OMIM:302960
Johanson-Blizzard Syndrome	Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo...	OMIM:243800
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Epicanthus, Ventricular septal defect, Situs inversus totalis, Non-midline cleft l...	ORPHA:1908
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Atr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Polyhydramnios, High palate, Gastroesophageal reflux, Atr...	ORPHA:353277
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria, Cleft soft palate, Spina bifida	ORPHA:99742
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Recurrent pneumonia, Gastroesophageal reflux, Neutropenia, Laryngeal cleft	OMIM:620012
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Gastroesophageal reflux, High palate, Emphysema, Hepatic steatosis, Portal hyperte...	OMIM:613658
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus, Low-set ears	ORPHA:65288
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Ventricular septal defect, Abnormality of the kidney, Lymphedema, Pa...	OMIM:606232
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Synophrys,...	ORPHA:536545
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Isotretinoin-Like Syndrome	Inguinal hernia, Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microti...	ORPHA:2306
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo...	ORPHA:95712
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, Hy...	OMIM:616975
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro...	OMIM:192445
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulminant hepatitis, Incre...	OMIM:215600
Cerebellofaciodental Syndrome	Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Mitral...	OMIM:616202
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Abnormal hair whorl, Fasting hyperinsulinemia, Premature g...	ORPHA:79474
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Intestinal malrotation, Flexion contracture, Tracheoesophageal fistula, ...	ORPHA:115
W Syndrome	Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of t...	ORPHA:2804
Pontocerebellar Hypoplasia, Type 17	Epicanthus, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, L...	OMIM:619909
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Amme Complex	Thin upper lip vermilion, Inguinal hernia, Diastasis recti, Hematuria, Elliptocytosis, Umbilical ...	OMIM:300194
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Umbilical hernia, Inguinal hernia, Gastroesophageal reflux, Elbow contracture	OMIM:620275
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit...	OMIM:612290
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Pat...	ORPHA:477817
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous...	ORPHA:2772
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothy...	OMIM:601005
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ...	ORPHA:363958
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Alopecia, Renal insufficiency, Pro...	ORPHA:728
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Epicanthus, Hepatomegaly, Ventricular septal defect, ...	OMIM:619418
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Epicanthus, Inguinal hernia, Ventricular septal defect, Transient neutropenia,...	OMIM:617107
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, High palate, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hyp...	OMIM:614866
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Umbilical hernia, Inguinal hernia, Nasolacrimal duct obstruction	ORPHA:3218
2Q31.1 Microdeletion Syndrome	Epicanthus, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Abnormal hair mo...	ORPHA:251014
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Proboscis Lateralis	External genital hypoplasia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Abnorma...	ORPHA:141099
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Posteriorly rotated ears, Micrognathia	OMIM:602562
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, Renal salt was...	OMIM:602522
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Shoulder dislocation, High...	OMIM:143095
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gast...	ORPHA:2044
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, High, narrow palate, Submucous cleft hard palate, Cleft pa...	ORPHA:2780
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Leukopenia, Colitis, Bone marrow hypocellularity, Nail dystrophy	OMIM:615190
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Deep ...	OMIM:309520
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,...	OMIM:304790
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Wrinkly Skin Syndrome	Delayed eruption of teeth, Epicanthus, Inguinal hernia, Short nail, Microdontia, Carious teeth, C...	OMIM:278250
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Femoral bowing, Anotia, Micr...	OMIM:616462
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Umbilical hernia, Micro...	ORPHA:1934
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's...	ORPHA:261236
Prolactinoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo...	ORPHA:2965
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Microti...	OMIM:620193
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Conductive hearing impairment, Hepatomegaly, Persistence o...	ORPHA:2785
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Hyperthyroidism, Ventricular septal defect, Diastasis recti, Decreased response to gr...	ORPHA:488632
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Entropion, Ac...	ORPHA:36426
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Pallor, Hepatic steatosis	ORPHA:348
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metaca...	OMIM:272460
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,...	OMIM:608612
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Hypogonadotropic hyp...	ORPHA:35687
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Hypoplasia of penis, Decreased response to growth hormone stimulation test, Abnormality of the de...	OMIM:601427
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot...	ORPHA:252164
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni...	OMIM:300472
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:763
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, Polyhydramnios, High, narrow palate, Narrow palate, Frontal hirsutism, Generaliz...	OMIM:612949
Duodenal Atresia	Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter...	ORPHA:1203
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Aortic valve calcification, Abnormality of the spleen, ...	ORPHA:2072
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Multiple pterygia...	OMIM:178110
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Long eyelashes, Abnormality of the dentition	OMIM:617952
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormal eyelash morphology, Aplasia/Hypoplas...	ORPHA:1425
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Dental cro...	ORPHA:79329
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Alopecia, Bronchiectasis, Ab...	ORPHA:99921
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Low anterior hairline,...	ORPHA:3201
Goldberg-Shprintzen Syndrome	Telecanthus, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Synophrys, ...	OMIM:609460
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Stroke-like episode, Polycys...	ORPHA:137675
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Elliptocytosis 1	Pallor	OMIM:611804
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Submucous cleft hard palate, Enuresis nocturna, Upslanted p...	OMIM:619680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microtia, Muscular dystrophy, Low-set ears, Retrognathia, Adducted thumb	OMIM:614643
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Curly hair, Epicanthus, Inguinal hernia, Ventricular septal defect,...	OMIM:607721
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Facial erythema, Increased hematocrit, ...	ORPHA:284227
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Abnorma...	ORPHA:464
Beck-Fahrner Syndrome	Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, High palate, Long philtrum, Open...	OMIM:618798
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Hamart...	OMIM:277170
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Woods Syndrome	Frontal hirsutism, Thin vermilion border, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li...	OMIM:616920
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Multiple joint contractures, Dysphagia	OMIM:128100
Coffin-Siris Syndrome 4	Sparse scalp hair, Everted upper lip vermilion, Thin upper lip vermilion, Ventricular septal defe...	OMIM:614609
Erythrocytosis, Familial, 1	Splenomegaly, Vertigo, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit	OMIM:133100
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Vascular dilatation, Ptosis	OMIM:277320
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con...	ORPHA:95455
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Inguinal hernia, External genital hypoplasia, Cryptorchidism, Submucous clef...	ORPHA:2250
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Ventricular septal defect, Pulmonary artery stenosis,...	ORPHA:85202
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Arthrogryposis multiple...	OMIM:607598
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Patent ductus arteriosus, Submucous cleft hard palat...	OMIM:301043
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Epicanthus, Ventricular septal defect, Polyhydramnios, Cryptorc...	OMIM:609942
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis	OMIM:601492
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Coxa va...	OMIM:620099
Cog1-Cdg	Osteopenia, Low-set, posteriorly rotated ears, Rhizomelia, Short neck, Coxa valga, Micrognathia, ...	ORPHA:263508
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Cryptorchidism, Laryngomalacia, Dysphagia, Micropenis	OMIM:619847
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V...	ORPHA:209905
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Abnormal thumb morphology, Carious teeth, Cupped ear, Microtia, Hea...	OMIM:620192
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Congenital malforma...	ORPHA:3455
Currarino Syndrome	Anal stenosis, Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sept...	OMIM:176450
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated h...	OMIM:276700
Rhizomelic Chondrodysplasia Punctata, Type 2	Inguinal hernia, Submucous cleft hard palate, Flexion contracture, High palate, Tetralogy of Fallot	OMIM:222765
Congenital Laryngeal Web	Abnormal cardiac septum morphology, Laryngomalacia	ORPHA:2374
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte...	OMIM:620133
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Sparse scalp hair, Anal stenosis, Thin upper lip vermilion, Narrow mouth, Flexion contracture, Dy...	OMIM:620029
Mowat-Wilson Syndrome	Bifid scrotum, Widely spaced teeth, Atrial septal defect, Hypospadias, Pulmonary artery sling, Ab...	OMIM:235730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Hypothyroid...	ORPHA:79259
Bazex-Dupré-Christol Syndrome	Macrotia, Abnormal finger morphology, Hypoplasia of the ear cartilage	ORPHA:113
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Lactose intolerance, Recurrent urinary tract infections, Delayed eruption of tee...	OMIM:619229
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Joint contracture, Ileal atresia, Ptosis	OMIM:615351
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Join...	ORPHA:3463
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Renal cyst, Atrial septal defect, Hepatic cysts	OMIM:263630
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Abnormal dental enamel morpholog...	ORPHA:85199
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Primary...	OMIM:239200
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu...	ORPHA:251038
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Acute hepatic...	ORPHA:537
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Faundes-Banka Syndrome	Premature thelarche, Micrognathia, Fetal ascites, Cryptorchidism, Cupped ear, Cleft palate, Dysph...	OMIM:619376
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior...	ORPHA:2021
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Microcytic anemia, Adipose tissue loss, Flexion contracture, Elevated ci...	OMIM:256040
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone...	OMIM:610978
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Hirsutism, Gingival overgrow...	OMIM:212066
Jung Syndrome	Recurrent respiratory infections, Telecanthus, Low posterior hairline, Tracheal stenosis, Hypothy...	ORPHA:2321
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi...	ORPHA:3255
Tay-Sachs Disease	Pallor	OMIM:272800
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Ravine Syndrome	Abnormality of the larynx	ORPHA:99852
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Microtia, Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteri...	ORPHA:2519
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Lymphedema, High, narrow palate, High palate, Atrial septal def...	OMIM:163950
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Keloids, Ventricular septal defect	ORPHA:357225
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Polyhydramnios, Congenital contracture, Chylothorax, Blepharophimosis	OMIM:619036
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Progressive flexion contr...	ORPHA:522077
Spondylometaphyseal Dysplasia, Schmidt Type	Gastroesophageal reflux, Cleft soft palate, Polyhydramnios	ORPHA:93316
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegal...	ORPHA:1304
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Nail dystrophy, Hypodontia, Dysphagia, Enamel hy...	OMIM:616029
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Short neck, Renal hypoplasia/aplasia, H...	ORPHA:3015
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogona...	ORPHA:91347
Warsaw Breakage Syndrome	Epicanthus, Ventricular septal defect, Wide mouth, High palate, Tetralogy of Fallot	OMIM:613398
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Flexion contracture, Submucous cleft hard palate, Fine hair, Aortic ro...	OMIM:618891
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hyper...	OMIM:615279
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Phaver Syndrome	Epicanthus, Ventricular septal defect, Camptodactyly of finger, Myelomeningocele, Hypoplastic aor...	ORPHA:2876
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Laryngomalacia	Laryngomalacia	OMIM:150280
Ivic Syndrome	Aplastic clavicle, Hearing impairment, Joint stiffness, Preaxial hand polydactyly, Short thumb, H...	ORPHA:2307
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia, Dysphagia, Sensorineural hearing impairment	OMIM:615919
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur...	OMIM:234050
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Epicanthus, Clitoral hypertrophy, Streak ovary, Hypospadias, Ileal atresia, Jejunal ...	OMIM:618820
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Recurrent respiratory infections, Laryngeal cleft, Laryn...	ORPHA:2004
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corners of mouth, Conjunctivi...	OMIM:616268
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Increased T cell ...	ORPHA:263665
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz...	ORPHA:160
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Epicanthus, Inguinal hernia, Ventricular septal defect, Transient neutropenia,...	ORPHA:500095
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Codas Syndrome	Omphalocele, Delayed eruption of teeth, Ventricular septal defect, Polyhydramnios, Cryptorchidism...	OMIM:600373
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ...	ORPHA:556955
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, High anterior hairline, Downturned corners of mouth, Adrenal insufficiency, ...	OMIM:615510
Orofaciodigital Syndrome Type 10	Telecanthus, Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membra...	OMIM:619525
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Dystonia-Aphonia Syndrome	Abnormal vocal cord morphology, Gingival overgrowth, Macroglossia, Abnormal urinary odor, Dysphag...	ORPHA:412217
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Eos...	OMIM:615816
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Brachydactyly, Toe syndactyly, Absent first metatarsal, Partial duplic...	OMIM:101400
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Synophrys, High palate, Short philtrum...	OMIM:619475
Desbuquois Dysplasia 2	Joint laxity, Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Short neck, Cox...	OMIM:615777
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Downslanted palpe...	ORPHA:52055
Lysinuric Protein Intolerance	Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ...	ORPHA:470
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Mixed hearing impairment, Facial palsy, Metaphyseal widening, Flared metap...	OMIM:123000
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H...	OMIM:613717
Acromesomelic Dysplasia 4	Synophrys, Umbilical hernia, Generalized hirsutism, Thick eyebrow, Hypertrichosis	OMIM:619636
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Downslanted p...	OMIM:618870
Pendred Syndrome	Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Nephropathy, Hypothyroidism, Goiter	ORPHA:705
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Pneumonia, Pericardial ef...	ORPHA:26793
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Polyhydramnios, Tubular luminal dilatation, Renal cor...	OMIM:219730
Pfeiffer Syndrome Type 2	Intestinal malrotation, Cleft palate, High palate, Laryngomalacia, Anal atresia	ORPHA:93259
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis, Erythema, ...	OMIM:308300
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, High, narrow palate, Rectal ...	ORPHA:79076
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Oral mucosal blisters, Atrophic scars, Abnormal epiglottis morphology, Smooth...	ORPHA:79396
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, G...	ORPHA:79408
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Camptodactyly, A...	OMIM:301039
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis,...	ORPHA:797
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Precocious...	OMIM:616682
Immunodeficiency 12	Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent aphthous st...	OMIM:615468
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Tapered finger, Short neck, Small hand, Renovascular hypertension, Short c...	ORPHA:401923
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga...	ORPHA:466791
Shprintzen Omphalocele Syndrome	Omphalocele, Epicanthus, Laryngeal hypoplasia, Hypoplasia of the pharynx, Thin vermilion border, ...	OMIM:182210
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Nodular pattern on pulmonary H...	OMIM:233450
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Hepatomegaly, Elevated hepatic transaminase, Dent...	ORPHA:394
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, F...	OMIM:619306
Occipital Horn Syndrome	Joint laxity, Short humerus, Redundant skin, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Ca...	OMIM:304150
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Brachydactyly, Type B1	Ventricular septal defect, Delayed eruption of permanent teeth, Camptodactyly, Micropenis, Joint ...	OMIM:113000
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Ventricular septal defect, Low posterior hairline, Thin vermilion bo...	ORPHA:85194
Lambotte Syndrome	Telecanthus, Ventricular septal defect, Narrow mouth	OMIM:245552
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Hypoglossia-Hypodactyly Syndrome	Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Gastro...	ORPHA:989
Ayme-Gripp Syndrome	Mandibular prognathia, Brachydactyly, Posteriorly rotated ears, Tapered finger, Sensorineural hea...	OMIM:601088
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni...	OMIM:612528
Stickler Syndrome, Type I	Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Bifid uvula	OMIM:108300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Yunis-Varon Syndrome	Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg...	ORPHA:3472
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate...	OMIM:119600
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Diabetes mellitus, Bicuspid aortic valve, Hypospadias, Lack of facial subcut...	OMIM:176690
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia	OMIM:614170
Leigh Syndrome	Multiple joint contractures, Gastrointestinal dysmotility, Complex organic aciduria, Neutropenia,...	ORPHA:506
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Vesicoureteral reflux, Atrial se...	ORPHA:353281
Hyperekplexia 1	Umbilical hernia, Inguinal hernia	OMIM:149400
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Laryngeal calcification, Ventricular septal defect, Tracheal st...	ORPHA:79345
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Ery...	OMIM:618175
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:899
Otopalatodigital Syndrome, Type Ii	Omphalocele, Hypospadias, Elbow contracture, Spina bifida, Dilatation of the sinus of Valsalva, C...	OMIM:304120
Mednik Syndrome	Jejunal atresia, Cholestasis, Upslanted palpebral fissure, Hepatic fibrosis, Cirrhosis, Volvulus,...	OMIM:609313
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Large earlo...	ORPHA:1236
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, Atrial septa...	ORPHA:438213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring, Knee flexion contracture, Long pa...	OMIM:603387
Costello Syndrome	Curly hair, Epicanthus, Renal insufficiency, Ventricular septal defect, Polyhydramnios, Pyloric s...	OMIM:218040
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone morphology, Gas...	OMIM:601162
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Alopecia totalis, Pericardial effusion, Normochromic anemia, Cholelith...	OMIM:618775
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Symblepharon, Phimosis, Carious teeth, Urethral stenosis, Gin...	OMIM:173650
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, High palate, Calcinosis, Hepatomegaly, Hypoplasia ...	OMIM:248370
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
X Small Rings	Thin upper lip vermilion, Epicanthus, Bicuspid aortic valve, Ventricular septal defect, Fetal pye...	ORPHA:96201
Cohen-Gibson Syndrome	Epicanthus, Cryptorchidism, Patent ductus arteriosus, Flexion contracture, Camptodactyly, Umbilic...	OMIM:617561
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Generalized hirsutism, Ab...	ORPHA:744
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Wolf-Hirschhorn Syndrome	Orofacial cleft, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, Atrial sep...	OMIM:194190
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Male pseudohermaphr...	ORPHA:1422
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h...	OMIM:130050
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ...	OMIM:100300
Otosclerosis 10	Otosclerosis	OMIM:615589
Cdags Syndrome	Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Sensorineural hearing impairment, ...	OMIM:603116
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ...	ORPHA:83463
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural hearing impairment, Macrogl...	ORPHA:79107
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Larsen Syndrome	Ventricular septal defect, Short nail, Tracheal stenosis, Cleft upper lip, Cryptorchidism, Cleft ...	OMIM:150250
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept...	ORPHA:99095
Lissencephaly 9 With Complex Brainstem Malformation	Epicanthus, Ventricular septal defect, Dysphagia	OMIM:618325
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Contractures of the large joints, Recurrent upper respiratory tract infect...	ORPHA:3078
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad...	ORPHA:512
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Sensorineural hearing impairment, Cleft palate, Pseud...	OMIM:607371
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,...	OMIM:608257
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon...	ORPHA:64
Congenital Respiratory-Biliary Fistula	Tracheal stenosis, Abnormality of the liver	ORPHA:2040
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Micrognathia, Flexion contracture, Bifid uvula, Dislocated radial head, Joint laxity,...	OMIM:130070
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Orofaciodigital Syndrome Type 14	Telecanthus, Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Bilateral c...	ORPHA:434179
Fanconi Anemia, Complementation Group N	Aplastic anemia, Epicanthus, Ventricular septal defect, Nephroblastoma	OMIM:610832
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Laryngomalacia, Ptosis	OMIM:615829
Periventricular Nodular Heterotopia 9	Posteriorly rotated ears, Tapered finger, Clinodactyly, Microtia, High palate, Clinodactyly of th...	OMIM:618918
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp...	ORPHA:83628
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Upslanted palpebral fissure, Wide mout...	OMIM:231050
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Dystrophic fingernails, Dystrophic toenail	ORPHA:158673
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Posteriorly rotated ears, Palpebral edema, Hiatus hernia, Micrognathia, 2-3 toe cutane...	OMIM:614756
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Elevated circulating e...	OMIM:263400
Xylt1-Cdg	Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Short f...	ORPHA:370930
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Facial hypotonia, Oral-pharyngeal dysphagia, Gastroint...	ORPHA:2131
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Ventricular septal defect, Secundum atrial septal defect, Patent forame...	OMIM:249420
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism...	OMIM:615474
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Myelomeningocele, Cleft palate, Short clavicles, Broad...	ORPHA:60015
Vocal Cord And Pharyngeal Distal Myopathy	Abnormality of the extraocular muscles, Bowing of the vocal cords, Abnormal morphology of muscula...	ORPHA:600
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the Epiglottis, Downslanted palpebral fissures, Shallow orbits	ORPHA:1129
Infantile Krabbe Disease	Cherry red spot of the macula, Gastroesophageal reflux, Laryngomalacia	ORPHA:206436
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clav...	OMIM:619793
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Carious teeth, Abnormal earlobe mo...	ORPHA:2769
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her...	ORPHA:325345
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc...	ORPHA:1393
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Unilateral Polymicrogyria	Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar paralysis, Stroke, ...	ORPHA:268943
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a...	ORPHA:391487
Isolated Epispadias	Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Abnormal pelvic girdle bo...	ORPHA:93928
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morpho...	ORPHA:363700
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Microtia-Anotia	Anotia, Microtia	OMIM:600674
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Tooth malposition, Narrow palate, Pulmonic s...	OMIM:277600
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Hypochrom...	ORPHA:97214
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Dilated cardiomyopathy, Bowing of the vocal cords, High palate, Dysphagia, Hype...	OMIM:164310
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint laxity, Microretrognathia, High palate, Short clavicles, Short 4th metacarpal	OMIM:606220
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Abnormality of the gingiva, Absent cupid'...	ORPHA:513456
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, High palate, Conductive hearing impai...	ORPHA:740
Keutel Syndrome	Sinusitis, Ventricular septal defect, Recurrent bronchitis, Cartilaginous ossification of larynx,...	OMIM:245150
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Aplasia of the inner ear, Peg-shaped maxillary lateral incisors, M...	OMIM:610706
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Abnormality of the larynx	ORPHA:420485
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Robin Sequence With Cleft Mandible And Limb Anomalies	Abnormal aryepiglottic fold morphology, Agenesis of mandibular central incisor, Pierre-Robin sequ...	OMIM:268305
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Ventricular septal defect, Bronchiectasis, Long philtrum, Uterine prolapse, Emph...	OMIM:123700
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Micrognathia, Sensorineural hearing impairment, Supernumerary tooth, Aplasia of the inner ear, Mi...	ORPHA:90024
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas...	ORPHA:3144
Holoprosencephaly 2	Adrenal hypoplasia, Submucous cleft hard palate, Bilateral cleft lip and palate, Single ventricle...	OMIM:157170
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Flexion contracture, Corneal scarring, High palate, Gastroesophageal r...	OMIM:614653
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, High, narrow palate, Hematochezia, R...	OMIM:619575
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia	ORPHA:293978
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Laryngomalacia	ORPHA:412069
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology	ORPHA:1782
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Alzahrani-Kuwahara Syndrome	Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Narro...	OMIM:619268
Isolated Arrhinia	Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage	ORPHA:1134
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl...	OMIM:619895
Amyotrophic Lateral Sclerosis 21	Bowing of the vocal cords, Dysphagia	OMIM:606070
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la...	ORPHA:449432
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Short nail, Flexion contract...	OMIM:271640
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Alg12-Cdg	Elevated hepatic transaminase, B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Mesiodens	ORPHA:314647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Micropen...	OMIM:278850
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Ventricular septal defect, Thick lower lip vermilion, Long philtrum, Thick upper lip ...	OMIM:619727
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770

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 Pbx1

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 Pbx1.

No publications found that use IMPC mice or data for Pbx1.

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
Pbx1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pbx1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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