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Gene: Tgfb2 MGI:98726

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

transforming growth factor, beta 2

Synonyms:

Tgf-beta2, Tgfb-2

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 Tgfb2 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 Tgfb2 (3 diseases)
Human diseases predicted to be associated with Tgfb2 (2929 diseases)

The table below shows human diseases associated to Tgfb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Des...	ORPHA:91387
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos...	OMIM:614816
Loeys-Dietz Syndrome	Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Arterial dissection, Aortic dissection...	ORPHA:60030

The table below shows human diseases predicted to be associated to Tgfb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Moyamoya Disease 5	Moyamoya phenomenon, Ascending tubular aorta aneurysm	OMIM:614042
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:613780
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:617349
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a...	OMIM:615436
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:301059
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:619515
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A...	OMIM:618664
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell...	OMIM:618643
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Aortic Aneurysm, Familial Thoracic 6	Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula...	OMIM:611788
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 10	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:614822
Spermatogenic Failure 11	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr...	OMIM:301099
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Aorto-Ventricular Tunnel	Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-vent...	ORPHA:3400
Arterial Dissection With Lentiginosis	Arterial dissection, Cystic medial necrosis	OMIM:600459
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 64	Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 86	Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure 78	Tapered sperm head, Male infertility, Microcephalic sperm head	OMIM:620170
Coronary Artery Dissection, Spontaneous	Coronary artery dissection, Cystic medial necrosis	OMIM:122455
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane...	ORPHA:229
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Spermatogenic Failure 5	Macrozoospermia, Male infertility, Multiflagellar spermatozoa	OMIM:243060
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Aortic Valve Disease 3	Aortic root aneurysm, Ascending aortic dissection	OMIM:618496
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Aneurysm, Intracranial Berry, 3	Cerebral berry aneurysm	OMIM:609122
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Crypt hyperplasia, Villous atrophy	OMIM:613217
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Ascending tubular aorta aneurysm, Arterial tortuosity	OMIM:132800
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Agenesis of perma...	OMIM:201000
Spermatogenic Failure 38	Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m...	OMIM:618433
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Protracted diarrhea, Villous atrophy	OMIM:251850
Lactose Intolerance, Adult Type	Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223100
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Transient ischemic attack, Aortic dissection, Subarachnoid hemorrhage, Intr...	ORPHA:231160
Aortic Aneurysm, Familial Thoracic 4	Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art...	OMIM:132900
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, Retrognathia, Double inlet left ventricle, Vesicoureteral ref...	OMIM:619869
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ...	OMIM:620103
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Alagille Syndrome	Delayed puberty, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Short distal ph...	ORPHA:52
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi...	OMIM:618734
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Diarrhea 12, With Microvillus Atrophy	Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions...	OMIM:619445
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus	ORPHA:1455
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Facial diplegia, Cochlear malformation, Pectus excavatum, C...	ORPHA:96148
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Short philtrum, Wide anterior fontanel, Scoliosis, Prominent fing...	OMIM:300963
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Den...	OMIM:180849
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the p...	ORPHA:2990
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Femoral bowing, Aplasia of the uterus, Corneal opacity...	OMIM:274000
Diarrhea 7, Protein-Losing Enteropathy Type	Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy	OMIM:615863
Recombinant Chromosome 8 Syndrome	Pectus excavatum, Pulmonic stenosis, Scoliosis, Abnormality of the dentition, Camptodactyly, Cryp...	OMIM:179613
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spondylolisthesis, Sandal gap, Dental crowding, Everted lower lip vermilion, Pectus excavatum, Pu...	OMIM:617877
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Microtia, S...	OMIM:617925
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Chronic diarrhea, Decreased small intestinal mucosa ...	ORPHA:103907
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Asymmetry of the thorax, Hyperlordosis, Large iliac wing, Aortic valve stenosis, Hi...	ORPHA:2780
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad thumb, Bicuspid a...	ORPHA:508498
Aneurysm Of Interventricular Septum	Vascular dilatation	OMIM:105805
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Optic nerve hypoplasia, Pectus excavatum, Abnormal heart morphology, Cervical...	ORPHA:508488
Aortic Aneurysm, Familial Thoracic 12	Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascending aortic dissection	OMIM:619825
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Pseudotrisomy 13 Syndrome	Cyclopia, Tricuspid atresia, Encephalocele, Hydrocephalus, Hemivertebrae, Postaxial hand polydact...	OMIM:264480
Trisomy 13	Bilateral single transverse palmar creases, Sensorineural hearing impairment, Kyphosis, Multiple ...	ORPHA:3378
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Aplasia/Hypoplasia of th...	ORPHA:1727
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Retrognathia, Optic nerve hypoplasia, Corneal opacity, Pulmonic stenosis, Meg...	OMIM:301056
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Small thenar eminence, Short...	OMIM:607323
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
3C Syndrome	Abnormal hip bone morphology, Hypoplasia of penis, Kyphosis, Death in infancy, Pulmonic stenosis,...	ORPHA:7
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal hip bone morphology, S...	ORPHA:1507
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
1Q21.1 Microdeletion Syndrome	Sensorineural hearing impairment, Broad thumb, Long philtrum, Abnormal cardiac septum morphology,...	ORPHA:250989
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Coloboma, Hemi...	OMIM:220210
Deleted in azoospermia	Azoospermia	OMIM:400003
Vein Of Galen Aneurysmal Malformation	Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology	ORPHA:1053
Charge Syndrome	Delayed puberty, Abnormal pinna morphology, Microtia, Bifid scrotum, Tracheoesophageal fistula, U...	ORPHA:138
Fanconi Anemia	Abnormal carotid artery morphology, Abnormal femur morphology, Renal hypoplasia/aplasia, Arteriov...	ORPHA:84
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin...	OMIM:265380
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Umbilical hernia, Abnormality of the...	OMIM:192430
Pallister-Hall Syndrome	Ectopic kidney, Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesome...	OMIM:146510
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, High, narrow palate, Patent ductus arteriosus, Sandal gap, Respiratory dist...	OMIM:612863
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Clitoral hypertrophy, Sensorineural hearing impairment, Prolonged neonatal ja...	OMIM:214100
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Hypoplasia of the ovary, Short long bone, Abnormal...	ORPHA:79328
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, A...	OMIM:306955
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Retrognathia, Ectopic kidney, Hypoplastic iliac wing,...	OMIM:235510
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Broad thumb, Prolonged neonatal jau...	OMIM:619534
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
3Mc Syndrome 1	Dental crowding, Short 5th finger, Sacral dimple, Single interphalangeal crease of fifth finger, ...	OMIM:257920
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Microtia, Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hyp...	OMIM:611209
Brittle Cornea Syndrome 1	Spondylolisthesis, Keratoglobus, Keratoconus, Decreased corneal thickness, Scoliosis, Congenital ...	OMIM:229200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Mixed hearing impairment, Repeated pneumothoraces, Pectus carinatum, Pectus excav...	ORPHA:536467
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Sensorineural hearing impairment, Microtia, Bifid uvula, Abnormality of the anus,...	OMIM:607872
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricul...	OMIM:618804
Seckel Syndrome 9	Congenital diaphragmatic hernia, Clitoral hypertrophy, Recurrent respiratory infections, Recurren...	OMIM:616777
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Aplasia of the proximal phalanges...	ORPHA:2256
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Abnormal optic disc morphology, Broad thumb, Bifid uvula, Congenital sensorineur...	ORPHA:293967
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tib...	OMIM:214800
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Abnormal heart morphology, Overlapping toe, Abnormality of the kidney, Perimembrano...	ORPHA:363444
Robinow Syndrome	Kyphoscoliosis, Mixed hearing impairment, Mesomelic arm shortening, Acromesomelia, Broad alveolar...	ORPHA:97360
Wolf-Hirschhorn Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of ...	ORPHA:280
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Sensorineural hearing impairment, Flexion contracture ...	ORPHA:2712
Hypoplastic Left Heart Syndrome 1	Coarctation of aorta	OMIM:241550
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Dislocated radial head, Sensorineural hearing i...	ORPHA:1826
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Limb hypertonia, Interrupted aortic arch, Attache...	OMIM:616920
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Lo...	OMIM:619343
Williams Syndrome	Chronic otitis media, Abnormal carotid artery morphology, Everted lower lip vermilion, Wide mouth...	ORPHA:904
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Microtia, Broad palm, Clinodactyly, Aganglionic megacolon, Pa...	OMIM:190685
Viss Syndrome	Rocker bottom foot, Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tort...	OMIM:619472
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Distal Triplication 15Q	Retrognathia, Sensorineural hearing impairment, Microtia, Abnormal sternum morphology, Kyphosis, ...	ORPHA:314588
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Corneal opacity, Pulmonic stenosis, Wide mouth, U...	ORPHA:709
Craniofacioskeletal Syndrome	Microtia, Hypoplastic frontal sinuses, Hypospadias, Short philtrum, Cryptorchidism, Short palm, S...	OMIM:300712
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Microtia, Pectus excavatum, Intestinal malrotation, ...	OMIM:300373
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Dislocated radial head, Sensorineural hearing impairment, Microtia, Clubbin...	OMIM:617063
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Aortic tortuosity, Thoracic aortic aneurysm	OMIM:616166
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Long philtrum, Long toe, Narrow palate, Pe...	OMIM:158170
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delayed menarche, Fema...	ORPHA:52901
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip...	OMIM:619135
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Corneal opacity, Short met...	OMIM:150250
Mass Syndrome	Ascending aortic dissection, Aortic aneurysm	OMIM:604308
Zellweger Syndrome	Clitoral hypertrophy, Sensorineural hearing impairment, Abnormal pinna morphology, Corneal opacit...	ORPHA:912
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni...	ORPHA:2311
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly,...	OMIM:619142
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pectus excavatum, Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Hypospadias, ...	OMIM:618316
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Intestinal malrotation, Cyst...	OMIM:269860
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Microtia, Long philtrum, Abnormal sacrum morphology, Abnormal fibula mo...	ORPHA:1988
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Abnormal pinna morphology, Ar...	ORPHA:1692
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Hamamy Syndrome	Sensorineural hearing impairment, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Synd...	OMIM:611174
Spermatogenic Failure 75	Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf...	OMIM:619949
Distal Duplication 14Q	Abnormal aortic morphology, Patent ductus arteriosus	ORPHA:1705
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Sensorineural hearing impairment, Aortic valve s...	OMIM:601808
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal aortic arch morphology, Abnormal mitral valve morphology, Hypoxemia, Cardiomegaly, Levot...	ORPHA:860
22Q11.2 Deletion Syndrome	Chronic otitis media, Corneal neovascularization, Abnormal aortic arch morphology, Small earlobe,...	ORPHA:567
Brittle Cornea Syndrome	Corneal erosion, Keratoglobus, Retinal detachment, Sensorineural hearing impairment, Corneal dyst...	ORPHA:90354
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Ureteral agenesis...	ORPHA:2437
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root aneurysm, 2-3 to...	OMIM:620025
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Duodenal ulcer, Clitoral hypertrophy, Retrognathia, Ectopic kidn...	OMIM:135900
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin of left coronary artery ...	OMIM:618845
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Urinary incontinence, Clinodactyly of the 5th finger, Scoliosis, Dental ...	ORPHA:476126
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Sensorineural hearing impairment, Midgut malrotation, Short lingual frenulum, Ri...	ORPHA:2326
Fibromuscular Dysplasia, Arterial	Aortic dissection, Stroke, Arterial fibromuscular dysplasia	OMIM:135580
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Hypospadias, Hydrocephalus,...	OMIM:175700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Cyanosis, Severe failure to thrive, Clubbing of fingers, Single transvers...	ORPHA:3304
Baraitser-Winter Syndrome 1	Long philtrum, Orofacial cleft, Retrognathia, Iris coloboma, Sensorineural hearing impairment, Lo...	OMIM:243310
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Right atr...	OMIM:270100
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Low-s...	OMIM:600987
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Hypoplasia of the diaphragm, Abnormal...	ORPHA:185
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Widely spaced teeth, Astigmatism, Scoliosis, Low-set ea...	OMIM:618205
Microphthalmia, Syndromic 2	Sandal gap, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid uvu...	OMIM:300166
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Feingold Syndrome Type 1	Sensorineural hearing impairment, Abnormal heart morphology, Abnormality of the kidney, Tricuspid...	ORPHA:391641
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Pectus carinatum, Underdeveloped tragus, Ventricular hypertrophy, ...	OMIM:620654
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Scoliosi...	OMIM:212780
Leopard Syndrome 1	Kyphoscoliosis, Limited elbow movement, Delayed puberty, Hypoplasia of the ovary, Sensorineural h...	OMIM:151100
Alagille Syndrome 1	Prolonged neonatal jaundice, Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypo...	OMIM:118450
Zimmermann-Laband Syndrome 1	Short distal phalanx of toe, Cardiomyopathy, Wide mouth, Umbilical hernia, Long philtrum, Short d...	OMIM:135500
Mosaic Trisomy 9	Rocker bottom foot, Hypoplasia of penis, Corneal opacity, Intestinal malrotation, Multiple renal ...	ORPHA:99776
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a...	OMIM:614823
Jejunal Atresia	Jejunal atresia	OMIM:243600
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Corneal opacity, Intestinal mal...	ORPHA:2059
Frank-Ter Haar Syndrome	Kyphoscoliosis, Developmental glaucoma, Broad alveolar ridges, Broad clavicles, Short long bone, ...	OMIM:249420
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Optic nerve hypoplasia, Ol...	OMIM:218600
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Absent thumb, Primary congenital glaucoma, Hypopla...	OMIM:105650
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Ventricular hypertrophy, Aortic tortuosity, Pe...	OMIM:208050
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Low-set, posteriorly rotated ears, Abnormal dental enam...	ORPHA:3071
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu...	ORPHA:401935
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal...	ORPHA:1166
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota...	ORPHA:2729
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Protein-losing enteropathy, Low-set ears, Camptodactyly...	OMIM:608104
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Sensorineural hearing impairment, Short humerus, Polydactyly, Hyposp...	ORPHA:17
Ogden Syndrome	Left atrial enlargement, Everted upper lip vermilion, Enlarged kidney, Sandal gap, Pectus excavat...	OMIM:300855
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Recurrent sinusitis, Overlapping toe, Decreased response to growth hormone stim...	OMIM:213980
Cenani-Lenz Syndrome	Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, H...	ORPHA:3258
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi...	ORPHA:3384
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Astigmatism, Delayed eruption of teeth, Hyperexte...	OMIM:619797
Bardet-Biedl Syndrome 19	External genital hypoplasia, Rod-cone dystrophy, Y-shaped metacarpals, Partial atrioventricular c...	OMIM:615996
Lactase Deficiency, Congenital	Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Des...	ORPHA:91387
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Preaxial polydactyly, Retrognathia, Ambiguous genitalia, Unilateral renal a...	OMIM:618142
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Low-set ears, Renal cyst, Cl...	OMIM:231060
Acro-Renal-Ocular Syndrome	Renal hypoplasia/aplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Renal malr...	ORPHA:959
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Bloody diarrhea, Abnormal in...	OMIM:619079
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Syringomyelia, Abnormal aortic valve morphology, Abnormal verteb...	ORPHA:261197
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Renal hypoplasia/aplas...	ORPHA:2092
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Hydroc...	ORPHA:261290
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Premature graying of hair, Retrognathia, Decreased cirrculating antimullerian hormone circulation...	OMIM:300845
Neonatal Marfan Syndrome	Pectus carinatum, Enlarged thorax, Arachnodactyly, Hypoxemia, Mitral valve prolapse, Adducted thu...	ORPHA:284979
Dubowitz Syndrome	Abnormal female external genitalia morphology, Sandal gap, Pectus excavatum, Broad thumb, Cutis m...	ORPHA:235
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Sensorineural hearing impairment, Tibial bo...	ORPHA:500095
Phaver Syndrome	Abnormal form of the vertebral bodies, Myelomeningocele, Broad thumb, Butterfly vertebrae, Pteryg...	ORPHA:2876
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
White Forelock With Malformations	Abnormal palate morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sp...	ORPHA:2475
Digeorge Syndrome	Right aortic arch with mirror image branching, Bifid uvula, Ovarian cyst, Recurrent sinusitis, Ab...	OMIM:188400
Pagod Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Death in infancy, Abnormal clavicle mo...	ORPHA:991
Monosomy 18Q	Kyphoscoliosis, Pulmonary valve defects, Sensorineural hearing impairment, Pectus excavatum, Atla...	ORPHA:1600
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ...	ORPHA:1354
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Large for gestational age, Hydroureter, Hypercalciuria, Scoliosis, Restri...	OMIM:615398
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phala...	ORPHA:79345
Gapo Syndrome	Asymmetry of the thorax, Abnormal form of the vertebral bodies, Everted lower lip vermilion, Hypo...	ORPHA:2067
Keutel Syndrome	Miscarriage, Pulmonic stenosis, Shortening of all distal phalanges of the fingers, Sinusitis, Sho...	OMIM:245150
Suleiman-El-Hattab Syndrome	Wide mouth, Long philtrum, Clinodactyly, Polydactyly, Patent foramen ovale, Cryptorchidism, Heari...	OMIM:618950
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Sensorineural hearing impairm...	ORPHA:1606
Telangiectasia, Hereditary Benign	Vascular dilatation	OMIM:187260
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Hypospadias, Dextrocardi...	ORPHA:96097
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the h...	ORPHA:3320
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Nuclear pulverulent cataract, Sutural cataract, Sensorineural hearing impairment, Prominent finge...	OMIM:612474
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-...	OMIM:617478
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Abnormal lung lobation, Congenital diaphragmatic hern...	OMIM:263210
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypopl...	ORPHA:2616
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Bicuspid aortic valve, Lop ear, Septate vagina, Labial hypoplasia, Pelvic k...	OMIM:300707
Pallister-Hall Syndrome	Ectopic kidney, Mesoaxial polydactyly, Microtia, Oligodactyly, Thyroid hypoplasia, Broad thumb, B...	ORPHA:672
Verheij Syndrome	Retrognathia, Small for gestational age, Optic nerve hypoplasia, Coloboma, Truncus arteriosus, Sc...	OMIM:615583
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Microtia, Pectus carinatum, Thoracic kyphoscoli...	OMIM:618371
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall...	OMIM:217085
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Congenital Heart Defects, Multiple Types, 2	Tetralogy of Fallot, Aortic aneurysm	OMIM:614980
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Transposition of the great arteries, Aortic root aneurysm	OMIM:619910
Three M Syndrome 1	Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Increased vertebral heigh...	OMIM:273750
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Hadziselimovic Syndrome	Thick lower lip vermilion, Ventricular hypertrophy, Low-set ears, High palate, Anal atresia, Pulm...	OMIM:612946
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short philtrum, Joint contracture of the 5th finger, Scoliosis, Low-set ears, Narro...	ORPHA:352490
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Pulmonic stenosis...	OMIM:601186
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Everted lower lip vermilion, Pectus excavatum, Kypho...	OMIM:610443
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Keratoglobus, Arachnodactyly, Coxa valga,...	ORPHA:3342
Noonan Syndrome With Multiple Lentigines	Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Abnormal...	ORPHA:500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Unilateral cleft lip, Thoracic hypoplasia, Cardiomegaly, Adducted thumb, Hypospadias,...	OMIM:616897
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao...	OMIM:217095
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	OMIM:194190
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Sacral dimple, Hypospadias, 2-3 toe syndactyly, Truncus arter...	OMIM:617516
Tarp Syndrome	Rocker bottom foot, Small earlobe, Glossoptosis, Pectus excavatum, Abnormal duodenum morphology, ...	ORPHA:2886
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Microtia, Short 5th finger, Long toe, Hypospadias, Short philtrum, Hydrocepha...	ORPHA:163979
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal pinna morphology, Enlarged...	ORPHA:251071
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Zttk Syndrome	Kyphosis, Bifid uvula, Cervical ribs, Optic atrophy, Short philtrum, Scoliosis, Hemivertebrae, Ab...	OMIM:617140
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi...	ORPHA:371428
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Retrognathia, Sacral dimple, Clinodactyly of the 5th finger, Esophageal ...	OMIM:301030
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal hemidiaphragm morphology, Cyanosis, Dextrocardia, Patellar hypoplasia, Low...	ORPHA:2257
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Abnormal heart morphology, Long philtrum, Overlapping toe, Patent foram...	OMIM:618494
Short Stature-Micrognathia Syndrome	Retrognathia, Broad femoral neck, Small scrotum, Coxa valga, Astigmatism, Rhizomelia, Cryptorchid...	OMIM:617164
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Dental crowding, Wrist flexion co...	OMIM:193700
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Primary Ciliary Dyskinesia	Chronic otitis media, Abnormal atrial arrangement, Clubbing, Abnormal inferior vena cava morpholo...	ORPHA:244
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Cog7-Cdg	Abnormality of the kidney, Retrognathia, Jaundice, Excessive wrinkled skin, Abnormal finger morph...	ORPHA:79333
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Low-set ears, Decreased body...	OMIM:617926
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic f...	ORPHA:90652
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Everted lower lip vermilion, Pectus excavatum, Cardiomegaly, Narrow ...	OMIM:620371
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Contracture of the proxima...	ORPHA:464738
Musculocontractural Ehlers-Danlos Syndrome	Kyphoscoliosis, Abnormal sternum morphology, Abnormal pinna morphology, Abnormal heart morphology...	ORPHA:2953
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Abnormal pinna morphology, Kyphosis, Adducted thumb, Hip dislocation, Sacral dimp...	OMIM:618291
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Kyphosis,...	OMIM:301040
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum mor...	ORPHA:1452
Arthrogryposis, Distal, Type 5	Exertional dyspnea, Keratoglobus, Pectus excavatum, Congenital finger flexion contractures, Kypho...	OMIM:108145
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w...	ORPHA:1596
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Retrognathia, 11 pairs of ribs, Low-set ears, High palate, Camptodactyly, Kyp...	OMIM:618393
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Ectopic kidney, Dislocated radial h...	OMIM:122470
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Perimembranous ventricular septal defect, Jaundice, Excessive wrinkled skin, Sensor...	OMIM:608779
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia...	ORPHA:2911
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Retinal dystrophy, Retinal detachment, Sensorineural hearing imp...	OMIM:222448
Contractural Arachnodactyly, Congenital	Kyphoscoliosis, Pectus carinatum, Wrist flexion contracture, Congenital finger flexion contractur...	OMIM:121050
8P23.1 Duplication Syndrome	Hearing impairment, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion borde...	ORPHA:251076
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Microtia, Abnormal sacrum morphology, Transpositi...	ORPHA:1926
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Ab...	OMIM:614437
7Q11.23 Microduplication Syndrome	Chronic otitis media, Retrognathia, Congenital diaphragmatic hernia, Abnormal earlobe morphology,...	ORPHA:96121
Cat Eye Syndrome	Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Umbilical hernia, Absent radius, ...	OMIM:115470
Emanuel Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Dental crowding, Severe hearing impairment, Pulm...	ORPHA:96170
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Pulmonic stenosis, Aortic valve steno...	OMIM:609029
Acrodysostosis	Abnormal female external genitalia morphology, Abnormal femur morphology, Abnormal form of the ve...	ORPHA:950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Ab...	ORPHA:96334
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Mandibular prognathia, Pectus excavatum, Abnormal digit morphology, Hearing...	OMIM:268850
Morbid Obesity And Spermatogenic Failure	Infertility, Oligozoospermia, Azoospermia	OMIM:615703
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Radial deviation of finger, Abnormal pinna morphology, Corneal opacity, Wri...	OMIM:268300
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Tongue nodules...	OMIM:311900
Marfan Syndrome	Kyphoscoliosis, Retrognathia, Spondylolisthesis, Dental crowding, Pectus carinatum, Pectus excava...	OMIM:154700
Van Bogaert-Hozay Syndrome	Astigmatism, Osteolytic defects of the phalanges of the hand, Tooth malposition, Abnormal pinna m...	OMIM:277150
Catel-Manzke Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Scoliosi...	ORPHA:1388
Marfan Syndrome	Retrognathia, Limited elbow movement, Spondylolisthesis, Dental crowding, Pectus carinatum, Cache...	ORPHA:558
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,...	OMIM:143095
Duane Retraction Syndrome	Ectopic kidney, Aniridia, Abnormal form of the vertebral bodies, Sensorineural hearing impairment...	ORPHA:233
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral va...	OMIM:601776
Chromosome 3Pter-P25 Deletion Syndrome	Thin vermilion border, Retrognathia, Atrioventricular canal defect, Sacral dimple, Small for gest...	OMIM:613792
Congenital Disorder Of Glycosylation, Type Ig	Sandal gap, Sensorineural hearing impairment, Abnormal pinna morphology, Short ribs, Short humeru...	OMIM:607143
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Pectus carinatum, Tracheoesophageal fi...	ORPHA:958
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Clitoral hypertrophy, Pectus carinatum, Everted lower lip vermilion, Kyphosis, Hypo...	OMIM:616449
De Barsy Syndrome	Kyphoscoliosis, Corneal opacity, Pectus excavatum, Umbilical hernia, Small, conical teeth, Adduct...	ORPHA:2962
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Scolios...	OMIM:619110
Halperin-Birk Syndrome	Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, Congenital ...	OMIM:618651
Poland Syndrome	Unilateral hypoplasia of pectoralis major muscle, Hypoplasia of latissimus dorsi muscle, Hypoplas...	OMIM:173800
Foxp1 Syndrome	Abnormality of the kidney, Hypoplastic helices, Recurrent otitis media, Retrognathia, Single tran...	ORPHA:391372
Trisomy 18	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Abnormal hip bone mo...	ORPHA:3380
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Persistent left superior vena cava	OMIM:609008
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Proximal placeme...	ORPHA:818
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Abnormal pinna morphology, Broad thumb, Long philtrum, Overlapping toe, Sacral dimp...	OMIM:617452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Hypospadias, Narrow chest, Respiratory distress, Wide anterior fonta...	OMIM:217980
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Agenesis of permanent teeth, Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypopla...	OMIM:616894
Trisomy 8P	Clinodactyly of the 5th toe, Retrognathia, Abnormal middle ear morphology, Clinodactyly of the 2n...	ORPHA:264450
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Corneal opacity, Microdontia, Aplasia/Hypoplasia...	ORPHA:3474
19Q13.11 Microdeletion Syndrome	Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Hypospadias, Solitary median...	ORPHA:217346
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Wide mouth, Congenital sensorineural hearing impairment, Dysplas...	OMIM:157800
Trisomy 1Q	Congenital diaphragmatic hernia, Arachnodactyly, Small scrotum, Short thorax, Hydrocephalus, Cryp...	ORPHA:261344
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o...	ORPHA:1352
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Radial deviation of finger, Sandal gap, Pectus excavatum, Long philtrum, Clinodacty...	OMIM:270450
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Low-set, posteriorly rotated ears, Anencephaly, Aplasia/Hypoplasia of the...	ORPHA:1908
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Maternal diabetes, Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus a...	ORPHA:1208
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Microtia, Glossoptosis, Wrist flexion contracture, Arachnodactyly, Lo...	ORPHA:436003
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin vermilion border, Short philtrum, Spina bifida occulta, Short lingual frenulum, Scoliosis, L...	OMIM:617360
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac...	OMIM:265000
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Retrognathia, Death in childhood, Hydrocephalus, Sensorineural hearing imp...	OMIM:612938
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, Developmental glaucoma, Corneal opacity, Delayed e...	ORPHA:2409
Cardiomyopathy, Familial Restrictive, 3	Aortic aneurysm	OMIM:612422
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Short metacarpal, ...	OMIM:304120
Loeys-Dietz Syndrome 4	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuos...	OMIM:614816
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Abnormal renal morphology, Abnormal pinna morphology, Abnormal heart morphology, Long...	ORPHA:477817
Gorlin Syndrome	Ovarian fibroma, Arachnodactyly, Palmar pits, Hydrocephalus, Scoliosis, Hemivertebrae, Cardiac fi...	ORPHA:377
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Dental crowding, Femoral bowing, Short ribs, Everted lower...	OMIM:600920
Feingold Syndrome 1	Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, 4-5 toe syndactyly, He...	OMIM:164280
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Microphthalmia, Syndromic 3	Sensorineural hearing impairment, Optic nerve hypoplasia, Butterfly vertebrae, Hypospadias, Hemiv...	OMIM:206900
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Retrognathia, Clinodactyly of the 5th finger, Proximal placement of ...	OMIM:620113
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Absent toe, Short ribs, Thyroid hypoplasia, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abn...	OMIM:308050
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Pectus excavatum, Myelomeningocele, Short thorax, Hydr...	OMIM:613686
Kagami-Ogata Syndrome	Kyphoscoliosis, Retrognathia, Long clavicles, Bell-shaped thorax, Thin ribs, Microtia, Diastasis ...	OMIM:608149
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Sensorineural hearing impair...	ORPHA:949
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ...	OMIM:261540
Alg3-Cdg	Neural tube defect, Coarctation of the descending aortic arch, Abnormality of the endocrine syste...	ORPHA:79321
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Jaundice, Sensorineural hearing impairment, Aplasia/Hypoplasia of...	ORPHA:290
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Pectus excavatum, Wide mouth, Umbilical hernia, Clino...	OMIM:280000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Broad distal phalanx of finger, Sensorineural hearing impairment, Dental crowd...	ORPHA:353281
Recombinant 8 Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Abnormal sternum morphology, Pe...	ORPHA:96167
Hydrolethalus Syndrome 1	Anencephaly, Abnormal vagina morphology, Abnormal pinna morphology, Hypospadias, Postaxial hand p...	OMIM:236680
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect...	OMIM:114290
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Retrognathia, Abnormal anterior horn cell morphology, Single transverse palma...	OMIM:611890
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha...	ORPHA:2369
Microtriplication 11Q24.1	Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Attached earlobe, Keratoconus, Scoli...	ORPHA:289522
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Dental crowding, Pectus excavatum, Kyphosis, Long philtrum, Short philt...	OMIM:617061
Down Syndrome	Bilateral single transverse palmar creases, Delayed puberty, Renal hypoplasia/aplasia, Sandal gap...	ORPHA:870
Acrofacial Dysostosis, Catania Type	Hypospadias, Spina bifida occulta, Single transverse palmar crease, Carious teeth, Short palm, Cl...	OMIM:101805
Microvillus Inclusion Disease	Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy	ORPHA:2290
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Retinal dystrophy, Retinal detachment, Sensorineural hearing imp...	ORPHA:2143
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Stroke, Adrenal hypoplasia, Precocious atherosclerosis, Skeletal muscle atr...	ORPHA:230839
Koolen-De Vries Syndrome	Ureteral duplication, Everted lower lip vermilion, Microdontia, Pectus excavatum, Kyphosis, Arach...	ORPHA:96169
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Sensorineural hearing impairment, Abnormal localization ...	ORPHA:921
Fountain Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Everted lower lip vermil...	ORPHA:3219
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Death in childhood, Left superior vena cava ...	OMIM:613759
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon...	OMIM:618780
Alport Syndrome	Recurrent corneal erosions, Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 depo...	ORPHA:63
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Atrial septal defect, Apl...	ORPHA:52056
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Long philtrum, Abnormal fibula morphology, Abn...	ORPHA:251014
Cerebellar-Facial-Dental Syndrome	Mitral valve prolapse, Long philtrum, Alveolar ridge overgrowth, Taurodontia, Ascending tubular a...	ORPHA:444072
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Moyamoya phenomenon, Ischemic stroke, Retrognathia, Decreased response to growth hormone stimulat...	ORPHA:280679
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Prominent fingert...	OMIM:605275
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Abnormal heart morpholo...	OMIM:608739
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Steatorrhea, Fat malabsorption, Increased fecal bile acid	OMIM:613291
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Broad femoral...	OMIM:212720
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Dilation of Virchow-Robin spaces, Dental crowding, Long philtrum, Short finger, 2-3 toe cutaneous...	OMIM:300998
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Arthrogryposis multiplex congenita, Failure to thrive, Tetralogy of F...	ORPHA:250994
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Coxa valga, A...	ORPHA:2484
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Broad thumb, Arachnodactyly, Long philtrum, Overlapping toe, Sacral dimple, Scolios...	ORPHA:505237
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Stenosis of the exte...	OMIM:614900
Kury-Isidor Syndrome	Rocker bottom foot, Recurrent otitis media, Widely spaced teeth, Proximal placement of thumb, Tri...	OMIM:619762
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Unilateral renal...	OMIM:184705
Incontinentia Pigmenti	Corneal opacity, Umbilical hernia, Abnormal chorioretinal morphology, Hearing abnormality, Retina...	ORPHA:464
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:1120
Coronary Arterial Fistula	Atrial septal defect, Exertional dyspnea, Vascular dilatation, Cardiomegaly, Bacterial endocardit...	ORPHA:2041
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Aortic aneurysm	ORPHA:98892
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Retrognathia, Decreased specific anti-polysaccharide antibody level, Unilateral re...	OMIM:614576
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Short humerus, Hip dislocation, Hypoplasia ...	OMIM:602471
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Optic nerve hypoplasia, Arachnodactyly, Abnormal heart morphology, Absent thumb, ...	ORPHA:500150
Adrenal Hypoplasia, Congenital	Azoospermia, Oligozoospermia, Precocious puberty, Primary adrenal insufficiency, Decreased circul...	OMIM:300200
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Craniofacial hyperostosis, Interrupted aortic arch, Abnormal aortic mor...	ORPHA:2396
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hydrocephalus, Wide anterior fontanel, Decreased body weight, Abnormality of the ...	OMIM:614886
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Clitoral hypertrophy, Abnormal earlobe morphology,...	ORPHA:2556
Diamond-Blackfan Anemia 6	Retrognathia, Triphalangeal thumb, Patent ductus arteriosus, Ventricular hypertrophy, Cleft upper...	OMIM:612561
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au...	OMIM:601559
Noonan Syndrome	Sensorineural hearing impairment, Pectus carinatum, Abnormal platelet function, Enlarged thorax, ...	ORPHA:648
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility, Vomiting, Enterocolit...	ORPHA:95427
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Corneal opacity, Kyphosis, Aortic valve stenosis, Constricted...	OMIM:253010
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Atlantoaxial dislocation, Optic nerve hypopl...	OMIM:602535
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopathy, Corneal opac...	ORPHA:217085
Noonan Syndrome 4	Ureteral duplication, Abnormal sternum morphology, Pectus excavatum, Pulmonic stenosis, Wide mout...	OMIM:610733
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Sandal gap, Morgagni diaphragmatic hernia, Death in infancy, Umbilical hernia, Long...	OMIM:613177
Prune Belly Syndrome	Pectus excavatum, Intestinal malrotation, Congenital posterior urethral valve, Abnormality of the...	ORPHA:2970
Lenz-Majewski Hyperostotic Dwarfism	Sensorineural hearing impairment, Broad clavicles, Cutis marmorata, Syndactyly, Broad ribs, Hypos...	OMIM:151050
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Developmental glaucoma, Sandal gap, Enlarged metaphyses, Disloca...	OMIM:245600
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty...	ORPHA:1786
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, Mixed hearing impairment, Iris coloboma, Sensorineural hearing impairment, Low-set ...	OMIM:300472
X-Linked Intellectual Disability, Nascimento Type	Wide mouth, Overlapping toe, Hypospadias, Patent foramen ovale, Cryptorchidism, Hearing impairmen...	ORPHA:163956
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Pancreatic aplasia, Pulmonic stenosis, Int...	ORPHA:2255
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ...	OMIM:619227
Squalene Synthase Deficiency	Retrognathia, Hypospadias, Knee flexion contracture, Slender long bone, Cutaneous photosensitivit...	OMIM:618156
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Low-set ears, Abnormal mitral ...	ORPHA:1919
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Hypoplastic...	OMIM:228520
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopathy, Corneal opac...	ORPHA:217093
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Renal hy...	ORPHA:2516
Kleefstra Syndrome	Chronic otitis media, Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Th...	ORPHA:261494
Chylomicron Retention Disease	Diarrhea, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting	OMIM:246700
Mosaic Trisomy 20	Retrognathia, Kyphosis, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dyspla...	ORPHA:1724
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join...	OMIM:154400
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Mixed hearing impairment, Ureteral duplic...	OMIM:305600
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Ventricular septal defect...	OMIM:615524
Young Syndrome	Azoospermia	OMIM:279000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Renal hypoplasia/aplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Aplasia/Hyp...	ORPHA:3186
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Long philtrum, Hip dislocation, Astigmatism, Sacral dimple, Scoliosis, Abnormality o...	OMIM:300968
Bardet-Biedl Syndrome 16	Polydactyly, External genital hypoplasia, Recurrent otitis media, Recurrent respiratory infection...	OMIM:615993
Chromosome 19Q13.11 Deletion Syndrome, Distal	Thin vermilion border, Retrognathia, Astigmatism, Clinodactyly of the 5th finger, Hypospadias, So...	OMIM:613026
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A...	ORPHA:2839
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Abnormal sternum morphology, Pulmo...	OMIM:616737
Holoprosencephaly	Spinal cord tumor, Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hy...	ORPHA:2162
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Retrognathia, Kyphoscoliosis, Limited elbow movement, Ventricular hypert...	OMIM:300280
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ...	ORPHA:141152
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Low-set ears, Pectus excavatum...	OMIM:617808
Congenital Heart Defects, Multiple Types, 4	Coarctation of aorta, Tetralogy of Fallot	OMIM:615779
Distal 22Q11.2 Microduplication Syndrome	Long philtrum, Sacral dimple, Short philtrum, Hydrocephalus, Abnormal helix morphology, Scoliosis...	ORPHA:261337
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Finger clinodactyly, Abnormal fundus morphology, Low-set ears, Abnormal number of i...	ORPHA:2958
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Ventricular septal defect, Intestinal malrotati...	ORPHA:457193
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Pulmonary artery atresia	OMIM:606217
16P12.1P12.3 Triplication Syndrome	Retrognathia, Prominent fingertip pads, Abnormal heart morphology, Wide mouth, Long philtrum, Sho...	ORPHA:485405
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he...	OMIM:305620
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev...	OMIM:229070
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Kabuki Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormal form of ...	ORPHA:2322
Boudin-Mortier Syndrome	Aortic root aneurysm	OMIM:619543
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal ...	OMIM:600001
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Lower limb amyotrophy, Small earlobe, Underdeveloped tragus, Pe...	OMIM:616268
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Abnormality of thyroid physiology, Exertional dyspnea, Dysp...	ORPHA:563
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Intercostal retractions, Primum atrial septal defect, Fail...	ORPHA:1329
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal palate morphology, Retrognathia, Clinodactyly of the 5th finger, Low-set, posteriorly ro...	ORPHA:1390
Ectopia Lentis 1, Isolated, Autosomal Dominant	Aortic root aneurysm	OMIM:129600
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu...	OMIM:618280
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Yuan-Harel-Lupski Syndrome	Long philtrum, Syringomyelia, Decreased nerve conduction velocity, Clinodactyly of the 5th finger...	OMIM:616652
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Death in infancy, Aortic valve stenosis, Intestinal malrot...	ORPHA:2308
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormality of the ear, Tricuspid valve prolapse, Long philtrum, High, narrow palate, Aniridia, A...	ORPHA:1101
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Microtia, Low-set ears, Everted lower lip vermilion, Decreased body weigh...	OMIM:615162
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal lung lobation, Abno...	ORPHA:2631
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Microtia, Low-set ears, Everted lower lip vermilion, Decreased body weigh...	ORPHA:357175
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Wide mout...	OMIM:253000
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Failure to thrive, Tetralogy of Fallot, Double outlet right ventricle, Ventric...	OMIM:601127
Mosaic Trisomy 16	Meckel diverticulum, Abnormal heart morphology, Wide mouth, Syndactyly, Craniofacial asymmetry, C...	ORPHA:1708
Fryns Syndrome	Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Meckel diverticulum, Promi...	OMIM:229850
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal met...	ORPHA:392
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent lower respiratory tract infections, Bowel diverticulosis, Hyperextensibility of the fin...	OMIM:130000
Inflammatory Skin And Bowel Disease, Neonatal, 1	Duodenitis, Bloody diarrhea, Villous atrophy	OMIM:614328
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Retrognathia, Corneal arcus, Flexion contracture of toe, Joint contracture of...	OMIM:602782
Double Outlet Right Ventricle	Cyanosis, Hypoparathyroidism, Truncus arteriosus, Narrow mouth, Pulmonary artery atresia, Aplasia...	ORPHA:3426
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Scoliosis, Cataract, Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Pulmonary Atresia With Intact Ventricular Septum	Hypoplastic right heart, Pulmonary artery atresia	OMIM:265150
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, High palate, Abnormal testis morphology, Obesity, Abnormal morpho...	ORPHA:2233
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Everted lower lip vermilion, Pectus excavatum, Abnormal heart morphology, Wide mout...	ORPHA:96092
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Patent foramen...	OMIM:618914
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Primum atrial septal defect, Low-set ears, Bone marrow hypocellularity, Absen...	OMIM:615272
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
10Q22.3Q23.3 Microduplication Syndrome	Chronic otitis media, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Low...	ORPHA:276422
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Patent ductus arteriosus	ORPHA:2978
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Bifid scrotum, Death in infa...	OMIM:270400
Zaki Syndrome	Congenital diaphragmatic hernia, Broad distal phalanx of finger, Sacral dimple, Patent ductus art...	OMIM:619648
Nail-Patella Syndrome	Microphakia, Sensorineural hearing impairment, Pectus excavatum, Disproportionate prominence of t...	OMIM:161200
Joubert Syndrome 18	Kyphoscoliosis, Retrognathia, Occipital encephalocele, Bowing of the long bones, Camptodactyly, R...	OMIM:614815
Prader-Willi Syndrome Due To Translocation	Retrognathia, Stellate iris, Everted lower lip vermilion, Abnormal heart morphology, Bifid uvula,...	ORPHA:177907
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Cochlear malformation, Micr...	ORPHA:2044
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Loeys-Dietz Syndrome 5	Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Pectus carinatum, Pe...	OMIM:615582
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Iris coloboma, Sensorineural hearing impairment, Abnormal pinna morphology, Scolios...	ORPHA:52055
Adams-Oliver Syndrome	Arteriovenous malformation, Abnormal metacarpal morphology, Encephalocele, Finger syndactyly, Abs...	ORPHA:974
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Abnormal female external genitalia morphology, Hypoplastic iliac wing, Sensorineura...	ORPHA:2637
Stickler Syndrome, Type I	Spondylolisthesis, Sensorineural hearing impairment, Pectus excavatum, Kyphosis, Arachnodactyly, ...	OMIM:108300
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Limb hype...	OMIM:619170
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Broad alveolar ridges, Tibial bowing, Abnormal heart morphology, Wi...	ORPHA:798
Mucopolysaccharidosis Type 4	Pectus carinatum, Hyperlordosis, Corneal opacity, Kyphosis, Wide mouth, Abnormal epiphysis morpho...	ORPHA:582
Waardenburg Syndrome Type 3	Atelectasis, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bone...	ORPHA:896
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma...	ORPHA:92050
Seckel Syndrome 4	Retrognathia, Severe failure to thrive, 11 pairs of ribs, Low-set ears, Steep acetabular roof, De...	OMIM:613676
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ...	ORPHA:1209
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Epiphyseal stippling, Optic nerve hypoplasia, Scoliosis, Stippled calcification proxi...	OMIM:222765
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	2-4 toe cutaneous syndactyly, Retrognathia, Abnormality of the endocrine system, Pectus excavatum...	ORPHA:268261
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Ectopic kidney, Glossoptosis, Short humerus, Thoracic hypop...	OMIM:117650
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Situs inversus totalis, Primum atrial septal defect, Partial atrioventricul...	OMIM:619608
Tetrasomy 15Q26	Kyphoscoliosis, Syringomyelia, Hypoplastic aortic arch, Hydrocephalus, Low-set ears, High palate,...	OMIM:614846
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Scoliosis, Elbow flexion con...	ORPHA:1143
Renpenning Syndrome	Sensorineural hearing impairment, Cachexia, Round ear, Pectus excavatum, Hypospadias, Short philt...	ORPHA:3242
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Syndactyly, Umbi...	OMIM:618164
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Abnormal heart morpholo...	OMIM:612289
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Prieto Syndrome	Retrognathia, Radial deviation of finger, 11 pairs of ribs, Talipes equinovarus, Low-set ears, Ab...	OMIM:309610
Fliedner-Zweier Syndrome	Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, Meningocele, Scoliosis, High p...	OMIM:620511
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Biliary hyperplasia, Arachnodactyly, Contracture of the distal interphalangeal join...	ORPHA:83617
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Pectus carinatum, Short ...	ORPHA:192
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Unicornuate uterus, Split foot, Hip dislocation,...	OMIM:200980
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Abnormal heart morphology, Bifid uvula, Bicuspid ao...	ORPHA:453499
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Pectus carinatum, Clubbing, Pectus excavatum, Flared iliac wing, Recurrent bronc...	OMIM:617303
Sifrim-Hitz-Weiss Syndrome	Flat acetabular roof, Bifid uvula, Astigmatism, Cryptorchidism, Hearing impairment, Short femoral...	OMIM:617159
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos...	OMIM:253700
Temtamy Syndrome	Aortic aneurysm	ORPHA:1777
Myotubular Myopathy With Abnormal Genital Development	Ambiguous genitalia, male, Retrognathia, Atelectasis, Hypospadias, Respiratory distress, Glandula...	OMIM:300219
Meckel Syndrome 14	Pneumothorax, Retrognathia, Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the ...	OMIM:619879
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Abnormal aortic valve morphology, Retrogn...	ORPHA:1194
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Abnormal fo...	ORPHA:1787
Dandy-Walker Malformation With Postaxial Polydactyly	Vascular dilatation, Hydrocephalus, Chorioretinal atrophy, Low-set ears, Postaxial hand polydacty...	OMIM:220220
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Cutis marmorata, Hypogonadism, Long philtrum, Hearing ...	OMIM:300882
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Genu valgum, Low-set, posteriorly rotated ears, Short philtrum, Hypoplasia...	ORPHA:2983
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Everted lower lip ...	ORPHA:363958
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Pectus excavatum, Broad thumb, Wide mouth, Umbilical hernia, Bicuspid ...	ORPHA:329224
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Radial deviat...	OMIM:227270
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Exaggerated cupid's bow, High palate, Everted lower lip vermil...	ORPHA:261120
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Sensorineural hearing impairment, Dental crowding, Pectus excavatum, Umbilica...	OMIM:612582
Oculoskeletodental Syndrome	Retrognathia, Scoliosis, Sensorineural hearing impairment, Oligodontia, Stroke, Thoracic kyphosis...	ORPHA:557003
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Low-set, posteriorly rotated ears, Sandal gap, Hypo...	ORPHA:3447
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, High, narrow palate, Dural ectasia, Narrow chest, Aortic root aneurysm, Hyperextens...	OMIM:616914
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Abnormal rib m...	ORPHA:2772
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ...	ORPHA:228190
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Pectus excavatum, Kyphosis, Aortic valve stenosis, Flexion contracture of finger...	ORPHA:464311
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Hypoxemia, Decreased response to growth hormone stimulation test, Elevated bronchoalveolar lavage...	OMIM:610978
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Low-s...	OMIM:620568
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Gapo Syndrome	Optic atrophy, Long philtrum, High, narrow palate, Thick lower lip vermilion, Breast hypoplasia, ...	OMIM:230740
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Wide mouth, Umbilical hernia, Small scrotum, 2-3 toe cutaneous s...	OMIM:618454
Cardiofaciocutaneous Syndrome	Pectus excavatum, Pulmonic stenosis, Long philtrum, Thickened helices, Optic atrophy, Excessive w...	ORPHA:1340
Shashi-Pena Syndrome	Retrognathia, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Cervical C2/C3 vertebr...	OMIM:617190
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss...	ORPHA:1797
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso...	OMIM:249710
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm	OMIM:301039
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Coronary artery atherosclerosis, Sensorineural hearing impairment, Hyperlordosis, Cerebral artery...	ORPHA:1192
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A...	ORPHA:320391
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Microtia, Pituitary adenoma, Aplasia/Hypoplasia of the middle pha...	ORPHA:96149
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Narrow chest, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, ...	OMIM:235255
Cap Myopathy	Aortic root aneurysm	ORPHA:171881
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Central posterior corneal opacity, Recurrent urinary tract infect...	OMIM:244600
Cardiac-Valvular Ehlers-Danlos Syndrome	Kyphoscoliosis, Sandal gap, Dental crowding, Pectus excavatum, Mitral valve prolapse, Left ventri...	ORPHA:230851
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Corneal opacity, Atlantoaxial abnormality, Pulmonic stenosis, Conge...	ORPHA:3455
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Microtia, A...	ORPHA:40366
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Abnormal pinna morpholog...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Abnormal pinna morpholog...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Abnormal pinna morpholog...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Abnormal pinna morpholog...	ORPHA:881
Spermatogenic Failure 14	Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula...	OMIM:615842
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Cyanosis, Exertional dyspnea, Recurrent respiratory infections, Clubbing...	ORPHA:99106
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Skraban-Deardorff Syndrome	Absent cupid's bow, Recurrent otitis media, Widely spaced teeth, Right aortic arch, Thick upper l...	OMIM:617616
Bohring-Opitz Syndrome	Retrognathia, Hyperechogenic pancreas, Dislocated radial head, Broad alveolar ridges, Bilateral c...	OMIM:605039
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Exertional dyspnea, Dental crowding, Ventricular hypertrophy, Corneal opacity, Fema...	ORPHA:740
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Pectus excavatum, Kyphosis, Aortic valve stenosis, Arachnodactyly, Polydactyly, ...	ORPHA:464306
Cog1-Cdg	Kyphoscoliosis, Microtia, Short long bone, Flat acetabular roof, Long philtrum, Coxa valga, Butte...	ORPHA:263508
Frontonasal Dysplasia 1	Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Co...	OMIM:136760
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Small pituitary gland, Sensorineural hearing impairment, Microtia...	ORPHA:93932
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Short toe, Brachyda...	OMIM:604381
Farber Disease	Short finger, Abnormality of the hand, Abnormality of the wrist, Atelectasis, Abnormality of the ...	ORPHA:333
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sensorineural hearing impairment, Clinodactyly, Sacral dimple, Triangular m...	OMIM:618460
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Sensorineural hearing impairment, Neurogenic blad...	OMIM:222300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Sensorineural hearing impairment, Everted lower lip vermilion, Long philtrum, Short distal phalan...	OMIM:220500
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Narrow chest, Delayed eruption ...	ORPHA:166272
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Renal hypoplasia/aplasia, Sensorineural hearing impairment, Microtia, Wide...	ORPHA:2549
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Cervical insufficiency, Pectus excavatum, Descending aortic dissection, ...	OMIM:130050
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hear...	OMIM:271700
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Corneal opacity, Kyphosis, ...	ORPHA:354
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud...	OMIM:619350
Leber Congenital Amaurosis 1	Sensorineural hearing impairment, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of ...	OMIM:204000
Marden-Walker Syndrome	Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, ...	ORPHA:2461
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Thin vermilion border, Sacral dimple, Dilation of Virchow-Robin spaces, Hyp...	ORPHA:261311
Marden-Walker Syndrome	Abnormal sternum morphology, Kyphosis, Arachnodactyly, Long philtrum, Hypospadias, Scoliosis, Cam...	OMIM:248700
Congenital Myopathy 2A, Typical, Autosomal Dominant	Retrognathia, Spinal rigidity, Scoliosis, Hyperlordosis, High palate, EMG: myopathic abnormalitie...	OMIM:161800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Kyphosis, Pulmonic stenosis,...	OMIM:618223
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormality of the philtrum,...	ORPHA:3268
Myhre Syndrome	Gingival cleft, Large iliac wing, Bifid uvula, Unilateral cleft lip, Hypogonadism, Abnormal epiph...	ORPHA:2588
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco...	ORPHA:64754
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Sandal gap, Repeated pneumothoraces, Dental crowding, Pectus exc...	OMIM:617602
Neuraminidase Deficiency	Epiphyseal stippling, Sensorineural hearing impairment, Bone-marrow foam cells, Cardiomyopathy, C...	OMIM:256550
Autosomal Recessive Centronuclear Myopathy	Retrognathia, Abnormal heart valve morphology, Hyperlordosis, High palate, Narrow mouth, Scapular...	ORPHA:169186
Classical Ehlers-Danlos Syndrome	Dislocated radial head, Cervical insufficiency, Arteriovenous fistula, Arterial dissection, Bruis...	ORPHA:287
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac...	OMIM:182212
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Ureteral duplication, Long philtrum, Short distal phalanx of fin...	OMIM:614080
Diamond-Blackfan Anemia	Developmental glaucoma, Abnormality of the thenar eminence, Microtia, Abnormality of the upper li...	ORPHA:124
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Wide mouth, Recurrent aspiration pneumonia, Prominent tragu...	ORPHA:280633
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Spinal rigidity, Pectoralis hypoplasia, Sensorineural hearing impairment, Glossopto...	OMIM:254940
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Microcornea, Narrow mouth, High palate, Hypogonadism, Cataract	ORPHA:2528
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Astigmatism, Fus...	OMIM:609053
Kabuki Syndrome 2	Prominent fingertip pads, Pulmonic stenosis, Short 5th finger, Hip dislocation, Hearing impairmen...	OMIM:300867
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:246
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Muscular dystrophy, High, narrow palate, Ankle flexion contracture, Knee flexion c...	OMIM:608799
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Hypoplastic labia m...	ORPHA:64755
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Sensorineural hearing impairment, Death in adolescence, Death in infancy, R...	OMIM:614866
Apert Syndrome	Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact...	OMIM:101200
Galloway-Mowat Syndrome 7	Kyphoscoliosis, Pectus excavatum, Arachnodactyly, Stage 5 chronic kidney disease, Clinodactyly, F...	OMIM:618348
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Respiratory distress, Short ribs, ...	OMIM:617895
Shprintzen-Goldberg Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Arachnod...	ORPHA:2462
Maternal Phenylketonuria	Long philtrum, Hypoplastic helices, Esophageal atresia, Abnormal renal morphology, High palate, C...	ORPHA:2209
10Q22.3Q23.3 Microdeletion Syndrome	Tricuspid valve prolapse, Atrioventricular canal defect, Intestinal polyposis, Breast aplasia, Lo...	ORPHA:276413
Craniofaciofrontodigital Syndrome	Pectus carinatum, Aortic valve stenosis, Abnormal cerebral vascular morphology, Long philtrum, Ca...	ORPHA:363705
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Dental crowding, Hyperlordosis, Thyroid hypoplasia, ...	OMIM:619503
Ogden Syndrome	Everted upper lip vermilion, High, narrow palate, Torticollis, Scoliosis, Low-set ears, Cryptorch...	ORPHA:276432
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Ankle flexion contracture, Stillbirth, Dental crowding, Elbow flexion contracture, ...	OMIM:617468
Cohen Syndrome	Delayed puberty, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Pect...	ORPHA:193
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Abnormality of the elbow,...	ORPHA:3098
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Intestinal malrotation, Astigmatism, Carious tee...	OMIM:244450
Lambotte Syndrome	Retrognathia, Ocular anterior segment dysgenesis, Semilobar holoprosencephaly, Narrow mouth, Atre...	OMIM:245552
Osteogenesis Imperfecta	Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Abnormal hip bone mo...	ORPHA:666
Silver-Russell Syndrome 3	Retrognathia, Clinodactyly of the 5th finger, Penoscrotal hypospadias, Low-set ears, Decreased bo...	OMIM:616489
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Thick lower lip vermilion, Sacral...	OMIM:620185
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, External genital hypoplasia, Proximal placement of thumb, Rectal atresi...	OMIM:613390
Microphthalmia, Lenz Type	Renal hypoplasia/aplasia, Abnormal pinna morphology, Hyperlordosis, Kyphosis, Abnormal clavicle m...	ORPHA:568
Ehlers-Danlos Syndrome, Classic-Like, 2	Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Mitral valve prolapse, Umbilical hernia, ...	OMIM:618000
Congenital Disorder Of Glycosylation, Type Iy	Widely spaced teeth, Hypospadias, Respiratory distress, Scoliosis, Macrotia, Micrognathia, Failur...	OMIM:300934
Tetrasomy 9P	Bilateral single transverse palmar creases, Abnormal earlobe morphology, Abnormal number of perma...	ORPHA:3310
8P11.2 Deletion Syndrome	Sacral dimple, Patent ductus arteriosus, Retinal dystrophy, Azoospermia, Hypoplasia of penis, Abn...	ORPHA:251066
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Short philt...	ORPHA:96129
Gabriele-De Vries Syndrome	Thick lower lip vermilion, Sandal gap, Facial hypotonia, Patent foramen ovale, Micrognathia, Low-...	OMIM:617557
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Epiphyseal stippling, Glossoptosis, Death in infancy, Cataract, Ventricular septal defect	OMIM:614876
Genitopatellar Syndrome	Clitoral hypertrophy, Hypoplastic ischia, Long philtrum, Small scrotum, Cryptorchidism, Hearing i...	ORPHA:85201
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Retrognathia, Large for gestational age, Sacral dimple, Clinodactyly of the 5th finger, Tapered t...	ORPHA:544488
Atrial Septal Defect, Sinus Venosus Type	Exertional dyspnea, Stroke, Dyspnea, Right ventricular dilatation, Anomalous pulmonary venous return	ORPHA:99105
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Kyphoscoliosis, Retrognathia, Recurrent lower respiratory tract infections, High palate, Hypothyr...	OMIM:618005
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo...	ORPHA:3104
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Sensorineural hearing impairment, Dental crowding, Pectus carinatum, Bifid ...	ORPHA:261552
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Sensorineural hearing im...	OMIM:617201
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre...	ORPHA:85188
Mogs-Cdg	Retrognathia, Sensorineural hearing impairment, Inappropriate antidiuretic hormone secretion, Lef...	ORPHA:79330
Gabriele-De Vries Syndrome	Sandal gap, Breast hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism...	ORPHA:506358
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Retrognathia, Death in childhood, Clinodactyly of the 5th finger, Gingival overgro...	OMIM:619422
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Nocturnal hypoventilation, Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnor...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Nocturnal hypoventilation, Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnor...	ORPHA:352665
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy	OMIM:614022
Trichothiodystrophy	Gonadal dysgenesis, Retrognathia, Panhypogammaglobulinemia, Clubbing, Cardiomyopathy, Recurrent b...	ORPHA:33364
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Ectopic kidney, Anencephaly, Hypoplasia...	ORPHA:887
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali...	OMIM:228300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infec...	OMIM:619103
Radio-Tartaglia Syndrome	Long philtrum, High, narrow palate, Retrognathia, Short philtrum, Dental crowding, Scoliosis, Low...	OMIM:619312
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Astigmatism, Congenital muscular torticollis, Wide anterior fontanel, Patent foram...	ORPHA:457279
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Hypospadias, Low-set, posteriorly rotated ears, Hypop...	ORPHA:1703
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal pinna morphology, Abnormal oral fr...	OMIM:200990
Cousin Syndrome	Ambiguous genitalia, male, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contract...	OMIM:260660
Postaxial Acrofacial Dysostosis	Pectus excavatum, Syndactyly, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of th...	OMIM:263750
Hyperlysinemia	Hypoplastic helices, Argininuria, Decreased urine alpha-ketoglutarate concentration, High palate,...	ORPHA:2203
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Microtia, Femoral b...	OMIM:616462
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Temporomandibular joint ankylosis, Cardiomyopathy, Corneal opac...	ORPHA:580
Keutel Syndrome	Optic atrophy, Recurrent otitis media, Hearing impairment, Pulmonary artery stenosis, Recurrent s...	ORPHA:85202
3P25.3 Microdeletion Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Broad thumb, Pulmonic stenosis, Ov...	ORPHA:435638
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Stickler Syndrome Type 1	Long philtrum, Abnormal vitreous humor morphology, Platyspondyly, Abnormal vertebral epiphysis mo...	ORPHA:90653
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Astigmatism, Sacral dimple, Decreased body mass index, Short philtrum, Pate...	OMIM:615668
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Hypoplastic labia majora...	OMIM:244300
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormal palate morphology, Hearing abnormality, Abnormal tricuspid valve morphology, Narrow mout...	ORPHA:2412
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Broad distal phalanx of finger, Sensorineural hearing impairment, Denta...	OMIM:300990
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Aortic valve steno...	OMIM:139210
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Mixed hearing impairment, Corneal neovascularization, Sensorineural h...	ORPHA:2363
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Cryptorchidism, ...	OMIM:612447
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Abnormal cardiac ventricle ...	ORPHA:2306
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Sensorineural hearing impairment, Abnormal vestibular function, Posterior embryotoxon, Tetralogy ...	OMIM:617992
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Vertigo, Arteriovenous fistulas of celiac and mesenteric vessels, Abno...	ORPHA:286
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating go...	ORPHA:8
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Sacral dimple, Short philtrum, Scoliosis, Micrognathia, Cataract, Atri...	OMIM:608227
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid...	OMIM:614837
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Recurrent otitis media, Clinodactyly of the 5th finger, Absence of renal corticomed...	OMIM:619758
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy...	OMIM:169550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast...	OMIM:208500
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s...	OMIM:608328
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Thick lower lip vermilion, Abn...	ORPHA:583
Trichohepatoenteric Syndrome 2	Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Villous atrophy	OMIM:614602
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal hip bone morphology, Low-set, posteriorly rotated ears, Abno...	ORPHA:1110
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Metacarpal osteolysis, Wrist swelling, Carpal osteolysis, Cornea...	OMIM:166300
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Central apnea, Respiratory distress, Pulmonary sequestration, Dyspnea, Ab...	ORPHA:70589
Aymé-Gripp Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, ...	ORPHA:1272
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormal fallopian tube morphology, Narrow chest, Abnormal renal morp...	ORPHA:1655
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Absent cupid's bow, Astigmatism, Ventricular hypertrophy, Celiac disease, Hearing impairment, Pul...	ORPHA:284169
Proprotein Convertase 1/3 Deficiency	Diarrhea, Villous atrophy	OMIM:600955
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Dextrocardia, Recurrent lower respiratory tract infections, Bronchiectasi...	OMIM:618254
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Sensorineural hearing impairment, Dental crowding, Pectus carinatum, Bifid ...	ORPHA:261537
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Hypospadias, Sensorineural hearing impairmen...	ORPHA:500159
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Anal atresia, Abnormal rib morphology,...	ORPHA:195
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Thickened helices, Clinodactyly, Ab...	ORPHA:3338
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Short philtrum, Central apnea, Abnormality iris morphology, Co...	ORPHA:1617
Sweeney-Cox Syndrome	Microtia, Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Hearing impairmen...	OMIM:617746
Phace Association	Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte...	OMIM:606519
Perching Syndrome	Respiratory distress, Scoliosis, High palate, Camptodactyly, Joint contracture, Cyanosis, Rod-con...	OMIM:617055
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epiphysis, Long philtrum, Hypop...	ORPHA:163649
Meier-Gorlin Syndrome 1	Clitoral hypertrophy, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Microd...	OMIM:224690
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Pneumonia, Atelectasis, Syringomy...	ORPHA:2357
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Death in infancy, Cardiomegaly, Long toe, Narrow palate, P...	OMIM:608836
Mowat-Wilson Syndrome	Urinary incontinence, Sensorineural hearing impairment, Dental crowding, Pectus carinatum, Bifid ...	ORPHA:2152
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Delayed puberty, Pro...	ORPHA:199
Congenital Short Bowel Syndrome	Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm...	OMIM:615237
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Respiratory distress, Patent foramen ovale, Low-set ears, Microretrognathia, ...	ORPHA:89844
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f...	OMIM:156550
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Low-s...	OMIM:615502
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Hypertrophic cardiomyopathy, Decreased circulating IgG level, Bronchiectasis,...	OMIM:619705
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Clinodactyly of the 5th finger, Dental malocclusion, Patent foramen ovale, H...	OMIM:619149
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinat...	OMIM:613795
Degcags Syndrome	Premature graying of hair, Retrognathia, Sensorineural hearing impairment, Pulmonic stenosis, Wid...	OMIM:619488
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Bifid scrotum, Tracheoesophageal fistula, Abnormal heart morphol...	ORPHA:2745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos...	ORPHA:444077
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Everted lower lip ve...	OMIM:212066
Desmosterolosis	Retrognathia, Renal hypoplasia/aplasia, Abnormal earlobe morphology, Low-set, posteriorly rotated...	ORPHA:35107
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Kyphosis, Hypogonadism, Clinodactyly, Abnormality of the philtr...	OMIM:615547
Esophageal Atresia	Bronchitis, Tracheoesophageal fistula, Intestinal malrotation, Abnormality of the ear, Episodic r...	ORPHA:1199
Ellis Van Creveld Syndrome	Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of...	ORPHA:289
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Secretory diarrhea, Episodic vomiting, Villous atrophy	OMIM:616050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Scoliosis, Decreased body weight, Precocious puberty, Hearing impairm...	OMIM:300958
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotatio...	OMIM:613091
Cardiofaciocutaneous Syndrome 1	Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Optic nerve dysplasia, Deep palmar crease,...	OMIM:115150
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Patent ductus arteriosus	ORPHA:404443
Aicardi Syndrome	Proximal placement of thumb, Optic atrophy, Butterfly vertebrae, Scoliosis, Hemivertebrae, Cleft ...	OMIM:304050
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Solitary m...	OMIM:619657
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Protein-losing enteropathy, Diarrhea, Vomiting, Villous atrophy	OMIM:602579
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Atrial septal defect, Retrognathia, Kyphoscoliosis, Ascending tubular aorta aneurys...	OMIM:617403
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Death in childhood, Hypospadias, Clubbing, Split hand, Low-set ears, Ventric...	OMIM:600460
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Frontalis muscle weakness, Facial palsy, Decreased body weight, Type 1 fibe...	OMIM:300580
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies,...	ORPHA:1834
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Abnormality of the upper limb, Corneal opacity, Low-set, ...	ORPHA:1052
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Femoral bowing, Kyphosis, Abnormality of the kidney, Excessive wrink...	ORPHA:1860
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Supernumerary nipple, Dextrocardia, Short philtrum, Peters anomaly...	OMIM:618929
Peho-Like Syndrome	Optic atrophy, Retrognathia, Tapered finger, Open mouth	OMIM:617507
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Conductive he...	ORPHA:2669
Hurler Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Everted lower lip vermilion, Corneal opacity,...	ORPHA:93473
Codas Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon...	OMIM:600373
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Symphalangism affec...	ORPHA:628
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Thin vermilion border, Clitoral hypertrophy, High, narrow palate, Retrognathia, Sh...	ORPHA:2707
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Abnormal heart morphology, Optic nerve dysplasia, Jaundice, Polycystic kidn...	OMIM:214110
X-Linked Intellectual Disability, Seemanova Type	Retrognathia, Hypoplasia of the musculature, High palate, Macrotia, Abnormal heart morphology, De...	ORPHA:85323
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pectus carinatum, Optic nerve hypoplasia, Pectus excavatum, Pulmonic stenosis, Bifid uvula, Long ...	OMIM:617506
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Torticollis, Everted lower lip vermilion, Pulmonic stenosis, Hand po...	OMIM:249670
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fi...	OMIM:618529
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Cryptorchidism, Micrognathia, ...	ORPHA:1918
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Low-set ears, Man...	ORPHA:1832
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Abnormal intestine morphology, Arteriosclerosis of small cerebr...	ORPHA:1830
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Aplasia/hypoplasia inv...	ORPHA:75508
Premature Aging Syndrome, Penttinen Type	Retrognathia, Sensorineural hearing impairment, Tibial bowing, Corneal opacity, Flexion contractu...	OMIM:601812
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci...	OMIM:312870
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sensorineural hearing impairment, Pectus carinatum, Broad thumb, Pulmonic steno...	OMIM:612541
Leber Congenital Amaurosis 2	Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara...	OMIM:204100
Nephrotic Syndrome, Type 11	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, High palate, Focal segmental g...	OMIM:616730
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cervical C2/C3 vertebral fusion, Abnormal...	ORPHA:2345
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Proximal pla...	OMIM:314390
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Short 4th metacarpal, Abnormal palate morphology, Abnormal shoulder...	ORPHA:1350
Congenital Myopathy 19	Bell-shaped thorax, Facial hypotonia, Scoliosis, High palate, Low-set ears, Congenital contractur...	OMIM:618578
Noonan Syndrome 13	Enlarged thorax, Microdontia, Wide mouth, Bruising susceptibility, Mitral valve prolapse, Long ph...	OMIM:619087
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Pectus carinatum, Mandibular prognathia, Open bite, High palate, ...	ORPHA:3079
Moebius Syndrome	Radial deviation of finger, Abnormal pinna morphology, Facial diplegia, Bifid uvula, Syndactyly, ...	OMIM:157900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Microtia, Tibial bowing, Microdontia, Short distal phalanx ...	OMIM:210720
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Thin vermilion border, Retrognathia, Patellar hypoplasia, Abnormality of the endocrine system, Se...	ORPHA:464288
Bohring-Opitz Syndrome	Retrognathia, Retinal atrophy, Pectus excavatum, Lower limb hypertonia, Cardiomegaly, Abnormal ca...	ORPHA:97297
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Abnormal form of the vertebral bodies, Sensorineu...	ORPHA:581
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age...	OMIM:609757
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus	OMIM:601612
Ck Syndrome	Retrognathia, Dental crowding, Scoliosis, Hyperlordosis, High palate, Abnormal digit morphology, ...	OMIM:300831
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Interrupted ...	OMIM:206920
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic atrophy, Retrognathia, Darwin tubercle of helix, Prominent fingertip pads, High palate, Upl...	OMIM:615722
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myopic astigmatism, Scoliosis, Tethered cord, Myelomeningocele, Pulmonic stenosis, Facial telangi...	OMIM:620141
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Abnormality of the endocrine system, Abnormal sternum morphology, Ab...	ORPHA:487796
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Retrognathia, Abnormal pinna morphology, High palate	OMIM:300983
Relapsing Polychondritis	Sensorineural hearing impairment, Vertigo, Pericarditis, Myocarditis, Recurrent aphthous stomatit...	ORPHA:728
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Dyspnea	ORPHA:422
Cednik Syndrome	Optic atrophy, Diffuse palmoplantar hyperkeratosis, Sensorineural hearing impairment, Stroke, Abn...	ORPHA:66631
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Abnormal pinna morphology, Tooth ag...	ORPHA:2710
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Narrow ch...	OMIM:618853
Mosaic Trisomy 8	Abnormal pinna morphology, Corneal opacity, Deep palmar crease, Scoliosis, Hearing impairment, Cl...	ORPHA:96061
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Miscarriage, Hypogonadism, Abnormal cerebral vascu...	ORPHA:902
Tetrasomy 5P	Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Wide anterior fontanel, Respiratory ...	ORPHA:3309
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Micrognathia, Spina bifida occulta	ORPHA:1514
Cardioacrofacial Dysplasia 2	Left superior vena cava draining to coronary sinus, Genu valgum, Clinodactyly of the 5th finger, ...	OMIM:619143
Aicardi Syndrome	Delayed puberty, Intestinal polyposis, Optic atrophy, Butterfly vertebrae, Short philtrum, Scolio...	ORPHA:50
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatum, Mesomelia, ...	OMIM:613610
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Abnormal pinna morphology, Postaxial hand polydactyly, Eve...	ORPHA:75389
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Recurrent respiratory infections, Respiratory distress, Pectus carinatum, Scoliosi...	OMIM:619383
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Bifid scrotum, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Pen...	OMIM:619148
Hajdu-Cheney Syndrome	Delayed puberty, Partial absence of toe, Pectus carinatum, Kyphosis, Aortic valve stenosis, Intes...	ORPHA:955
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal pinna morphology, Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral...	ORPHA:1900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Bell-shaped thorax, Homocystinuria, Cryptorchidism, Tachypnea, Failure ...	OMIM:614857
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Noonan Syndrome 3	Tricuspid valve prolapse, Pectus carinatum, Patent foramen ovale, Low-set ears, Ventricular septa...	OMIM:609942
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Hyperlordosis, Flat acetabular roof, Pectus excavatum, Long philt...	OMIM:618870
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Respiratory distress, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, In...	ORPHA:26792
Fabry Disease	Delayed puberty, Abnormal femur morphology, Sensorineural hearing impairment, Vertigo, Corneal op...	ORPHA:324
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Retrognathia, Sensorineural hearing impairment, Optic nerve hypoplasia, Everted l...	OMIM:612513
7Q31 Microdeletion Syndrome	Long philtrum, Childhood onset sensorineural hearing impairment, Clinodactyly of the 2nd finger, ...	ORPHA:251061
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Facial hypotonia, Broad thumb, Micrognathia, Brachydactyly...	OMIM:614526
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Low-set, posteriorl...	ORPHA:2701
Rhizomelic Syndrome	Rhizomelia, Wide anterior fontanel, Pulmonic stenosis, Micrognathia, Bifid distal phalanx of the ...	OMIM:268250
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial...	OMIM:136140
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the pectoralis major muscle, Hypoplasia of penis, Pectus carinatum, A...	ORPHA:3138
Bardet-Biedl Syndrome	Retrognathia, Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ovary, Dent...	ORPHA:110
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Astigmatism, Scoliosis, Renal dysplasia, Low-set ears, Pectus excavatum, Cataract,...	OMIM:618571
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Kyphoscoliosis, Delayed puberty, Dental crowding, Wide mouth, Left ventricular hypertrophy, Short...	ORPHA:466791
Lethal Congenital Contracture Syndrome 10	Short long bone, Femoral bowing, Long philtrum, Cardiomegaly, Adducted thumb, Broad ribs, Narrow ...	OMIM:617022
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon...	OMIM:108720
Isolated Atp Synthase Deficiency	Optic atrophy, 3-Methylglutaconic aciduria, Respiratory distress, Sensorineural hearing impairmen...	ORPHA:254913
Ulnar-Mammary Syndrome	Delayed puberty, Aplasia of the 4th metacarpal, Short humerus, Small scrotum, Aplasia of the 3rd ...	OMIM:181450
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, Hypospadias, Abn...	ORPHA:1913
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Astigmatism, Hypospadias, Low-set, posteriorly rotated ears, Peters anomaly, Scoli...	ORPHA:494344
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Everted upper lip vermilion, Thick lower lip vermilion, Patent duct...	OMIM:614609
Glycogen Storage Disease Due To Acid Maltase Deficiency	Exertional dyspnea, Hyperlordosis, Left ventricular hypertrophy, Cardiomegaly, Thoracic aortic an...	ORPHA:365
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Microtia, Bifid first metacarpal, Femoral bowing, Short metacarpal, Death in...	OMIM:210710
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Pelvic kidney, Patent foramen ovale, Scoliosis, Micropenis, Cutaneous photosensi...	OMIM:618653
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Microdontia, Pulmonic stenosis, Cutis marmor...	OMIM:610759
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Low-set ears, Ventric...	OMIM:619189
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Metaphyseal enchondromatosis, Metaphyseal irregularity, Long philtrum, Metaphyseal ...	ORPHA:99646
Fumarase Deficiency	Optic atrophy, Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Conjunctiva...	OMIM:606812
Leber Congenital Amaurosis 4	Keratoconus, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Opti...	OMIM:604393
Partial Atrioventricular Septal Defect	Exertional dyspnea, Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus e...	ORPHA:1330
3Mc Syndrome	Orofacial cleft, Caudal appendage, Abnormal anterior chamber morphology, Spina bifida occulta, Ab...	ORPHA:293843
Developmental And Epileptic Encephalopathy 111	Wide anterior fontanel, Single transverse palmar crease, Low-set ears, Nephrolithiasis, Cryptorch...	OMIM:620504
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption	OMIM:221400
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Abnormal diaphysis...	ORPHA:1842
Macdermot-Winter Syndrome	Hypoplastic male external genitalia, Death in infancy, Camptodactyly of finger, Macrotia, Hydrone...	OMIM:247990
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Hereditary Bullous Dystrophy, Macular Type	Short finger, External genital hypoplasia, Corneal opacity, Cataract, Decreased testicular size, ...	ORPHA:1867
Cockayne Syndrome Type 3	Premature graying of hair, Retinal atrophy, Cardiomyopathy, Kyphosis, Scoliosis, Adult onset sens...	ORPHA:90324
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Pectus excavat...	ORPHA:1772
Townes-Brocks Syndrome	Delayed puberty, Ectopic kidney, Abnormal vagina morphology, Hypoplasia of penis, Absent toe, Abn...	ORPHA:857
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
C Syndrome	Clitoral hypertrophy, Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide ...	OMIM:211750
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Pectus carinatum, Intestinal malrotation, Cutis marmorata, Syndactyly, Enamel agenesis, Long phil...	OMIM:614701
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormal heart morphology, Wide mouth, Syndactyly, Umbilical hernia, Clinodactyly, Abnormality of...	ORPHA:369891
Congenital Disorder Of Glycosylation, Type Id	Diarrhea, High palate, Vomiting, Bifid uvula, Villous atrophy	OMIM:601110
Ramos-Arroyo Syndrome	Aganglionic megacolon, Severe failure to thrive, Corneal ulceration, Smooth tongue, Absent retina...	ORPHA:1051
Myopathy, Centronuclear, 5	Retrognathia, High palate, Narrow mouth, Hip contracture, Bifid uvula, Micrognathia, Centrally nu...	OMIM:615959
Lateral Meningocele Syndrome	Dental crowding, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Long p...	OMIM:130720
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Pectus excavatum, Abnormal heart morphology, Nephrocalcinosis, Long philtrum, Astigmatism, Scolio...	ORPHA:369837
Baller-Gerold Syndrome	Abnormal cardiac septum morphology, Abnormal carpal morphology, Abnormal metacarpal morphology, A...	ORPHA:1225
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Atypical Werner Syndrome	Rocker bottom foot, Premature graying of hair, Delayed puberty, Calf muscle hypertrophy, Aortic v...	ORPHA:79474
Ring Chromosome 8 Syndrome	Abnormal palate morphology, Round ear, Abnormality of the ureter, Deviation of finger, Hydronephr...	ORPHA:1450
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip...	OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Sandal gap, Microtia, Everted lower lip vermilion, Microdontia, Wide mouth, Astigma...	OMIM:156200
Codas Syndrome	Hydroureter, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Sensorineural hear...	ORPHA:1458
Cohen Syndrome	Delayed puberty, Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, Short ...	OMIM:216550
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testicular ...	ORPHA:335
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis	OMIM:614897
Teebi Hypertelorism Syndrome 1	Small hand, Aortic root aneurysm, Dental crowding, Bicornuate uterus, Broad palm, Micrognathia, N...	OMIM:145420
Mowat-Wilson Syndrome	Pectus carinatum, Bifid scrotum, Pectus excavatum, Pulmonic stenosis, Generalized muscle hypertro...	OMIM:235730
Acrorenal Syndrome	Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Micro...	ORPHA:971
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Retrognathia, Short clavicles, Microtia, Recurrent shoulder dislocation, Cardiomyopathy, Finger j...	OMIM:212112
Congenital Tracheomalacia	Tracheoesophageal fistula, Abnormal heart morphology, Cardiomegaly, Dyspnea, Failure to thrive, P...	ORPHA:95430
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears...	ORPHA:2635
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Pelvic kidney, Ventricular septal defect, Subcutaneous lipoma, Hypoplasia of the i...	OMIM:613001
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Attenuation of retinal blood vessels, Cor...	OMIM:267750
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Distal shortening of limbs, Spina bifida occulta, Abnormal pinna morphology, Abnorm...	ORPHA:488434
Acute Interstitial Pneumonia	Ground-glass opacification, Cyanosis, Atelectasis, Pleural effusion, Parenchymal consolidation, D...	ORPHA:79126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Pectus carinatum, Bone marrow hypocellularity, Abnormal heart morphology, Optic ...	ORPHA:505248
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, High-frequency hearing impairment, Otitis media, Rod-cone dyst...	OMIM:300455
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Pectu...	ORPHA:373
6P22 Microdeletion Syndrome	Abnormal palate morphology, Finger syndactyly, Hydrocephalus, Low-set ears, Hearing impairment, C...	ORPHA:251046
Mmep Syndrome	Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Split foot, Ventricu...	ORPHA:3434
Acrocardiofacial Syndrome	Hypoplasia of penis, Death in infancy, Split foot, Abnormal metacarpal morphology, Hypospadias, T...	ORPHA:2008
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Low-set ears, Macrotia, Downturned corners of mouth, Volvulus, Wide mouth, ...	OMIM:615009
Schimke Immunoosseous Dysplasia	Microdontia, Stage 5 chronic kidney disease, Astigmatism, Arteriosclerosis, Decreased circulating...	OMIM:242900
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Narrow palate, Retrognathia, Optic atrophy, Astigmatism, Maternal diabetes, Retinal dystrophy, Lo...	OMIM:620428
White-Sutton Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Optic nerve hypoplasia, Broad ...	OMIM:616364
Mgat2-Cdg	Abnormal earlobe morphology, Abnormality of the endocrine system, Impaired platelet aggregation, ...	ORPHA:79329
Seckel Syndrome 5	Retrognathia, Clitoral hypertrophy, Clinodactyly of the 5th finger, 11 pairs of ribs, Hypospadias...	OMIM:613823
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Enuresis, Obesity, Malar flattening, Open mouth, Failure to thrive in infancy	OMIM:613670
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Cubitus valgus, Low-set, posteriorly rotated ears, Spina bifida occulta, Slender l...	ORPHA:1185
Leber Congenital Amaurosis	Encephalocele, Keratoconus, Abnormal optic disc morphology, Hearing impairment, Abnormality of re...	ORPHA:65
Crisponi/Cold-Induced Sweating Syndrome 1	Kyphoscoliosis, Retrognathia, Radial deviation of finger, Long philtrum, Adducted thumb, Elbow fl...	OMIM:272430
Weill-Marchesani Syndrome 1	Broad metatarsal, Pulmonic stenosis, Aortic valve stenosis, Broad ribs, Narrow palate, Tooth malp...	OMIM:277600
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Hypospadias, Non-midl...	ORPHA:3080
Perlman Syndrome	Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Hyperinsulinemia, ...	ORPHA:2849
Distal Limb Deficiencies-Micrognathia Syndrome	Sensorineural hearing impairment, Oligodactyly, Microdontia, Split foot, Tarsal synostosis, Abnor...	ORPHA:1307
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Retrognathia, Sandal gap, Optic nerve hypoplasia, Enl...	ORPHA:261349
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Hydrometrocolpos, Tarsal synostosis, Aganglionic megacolon, Abnormal me...	ORPHA:2473
Hypermobile Ehlers-Danlos Syndrome	Vertigo, Dental crowding, Abnormal autonomic nervous system physiology, Microdontia, Arterial dis...	ORPHA:285
Spermatogenic Failure 13	Male infertility, Elevated circulating follicle stimulating hormone level, Abnormal prolactin lev...	OMIM:615841
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:2141
Williams-Beuren Syndrome	Kyphoscoliosis, Premature graying of hair, Sensorineural hearing impairment, Abnormal renal morph...	OMIM:194050
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Pectus carinatum, Scoliosis, L...	OMIM:616564
Craniodiaphyseal Dysplasia	Diaphyseal undertubulation, Optic atrophy, Craniofacial hyperostosis, Stenosis of the external au...	ORPHA:1513
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short long bone, Short ribs, Accessory oral frenulum, Cone-shaped epiphysis, Hydrometrocolpos, Ap...	OMIM:617088
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short long bone, Short ribs, Hypoplastic ischia, Abnormal heart morphology, Encephal...	ORPHA:1865
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P...	ORPHA:175
Orofaciodigital Syndrome Type 5	Abnormal oral frenulum morphology, Bifid uvula, Accessory oral frenulum, Aganglionic megacolon, A...	ORPHA:2919
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Ureteral duplication, Temporomandibular joint ankylosis, Over...	OMIM:275210
Perlman Syndrome	Distal ileal atresia, Congenital diaphragmatic hernia, Everted upper lip vermilion, Large for ges...	OMIM:267000
Oculoauricular Syndrome	Short mandibular rami, Microphakia, Ocular anterior segment dysgenesis, Stenosis of the external ...	OMIM:612109
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Situs inversus totalis, Male infertility, Atelectasis, Absent frontal sinus...	OMIM:244400
Distal Duplication 6P	Abnormal lung lobation, Thin vermilion border, Sacral dimple, Aplasia/Hypoplasia of the earlobes,...	ORPHA:1745
Mend Syndrome	Kyphosis, Aortic valve stenosis, Abnormal heart morphology, Overlapping toe, Sacral dimple, Hydro...	ORPHA:401973
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Tricuspid atresia, Double outlet left ventricle, Cyanos...	ORPHA:3427
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Aplasia of the uterus, Everted lower lip vermili...	OMIM:601803
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Cachexia, Hyperlordosis, Everted l...	ORPHA:800
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Cardiomyopathy, Co...	OMIM:253200
Nail-Patella Syndrome	Abnormal femur morphology, Coronary artery dissection, Spondylolisthesis, Spondylolysis, Dislocat...	ORPHA:2614
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Thyroid hypoplasia, Tracheoesophageal ...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Retrognathia, Microtia, Hyperlordosis, Everted lower ...	OMIM:620450
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Keratoconus, Abnormal helix morphology, Optic nerve hypopla...	ORPHA:401777
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Posterior emb...	OMIM:610205
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Abnormal vertebral morphology, Esophageal atresia, Optic disc hypoplasia,...	OMIM:300514
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Scoliosis, High palate, Pectus excavatum, Facial palsy, EMG: myopathic abno...	OMIM:614399
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Respiratory distress, Abnormal sternum morphology, Short ribs, Postaxial ha...	ORPHA:2519
Filippi Syndrome	Optic atrophy, Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palm...	OMIM:272440
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ectopic kidney, Respiratory distress, Morgagni diaphragmatic her...	OMIM:613309
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Pulmonic stenosis, Long philtrum, Hypospadias, Triangular mouth, Hydrocephalus, Sh...	OMIM:257300
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clitoral hypertrophy, Syringomyelia, Clinodactyly of the 5th finger, Ec...	ORPHA:140952
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Recurrent otitis media, Dyspnea, C...	OMIM:614921
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Retrognathia, Neoplasm of the tongue, Thyroid hypopla...	ORPHA:3047
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Renal tubular acidosis, Low-set ears, Arthrogryposis multiplex congenita, Nephrogenic d...	OMIM:613404
Lmna-Related Cardiocutaneous Progeria Syndrome	Coronary artery atherosclerosis, Aortic root aneurysm, Intracranial hemorrhage, Abnormality of th...	ORPHA:363618
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Retrognathia, Microcornea, Hypoplasia of teeth, Macrotia, Ventricular septal defec...	OMIM:234050
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Ovarian cyst, Syndactyly...	OMIM:311200
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc...	OMIM:614170
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Ulnar bowing, Narrow chest, Hydrocephalus, Stenosis of the external auditory ...	OMIM:207410
Carpenter Syndrome 2	Retrognathia, Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, Broad thumb, ...	OMIM:614976
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Zygomycosis	Retinal arterial occlusion, Acute infectious pneumonia, Sinusitis, Pericarditis, Myocarditis, Abn...	ORPHA:73263
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes,...	ORPHA:98791
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of ...	ORPHA:1381
Ciliary Dyskinesia, Primary, 29	Situs inversus totalis, Atelectasis, Decreased circulating antibody level, Infertility, Bronchiec...	OMIM:615872
Cri-Du-Chat Syndrome	Premature graying of hair, Abnormal pinna morphology, Short metacarpal, Bifid uvula, Syndactyly, ...	OMIM:123450
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperost...	ORPHA:2790
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Short phil...	ORPHA:3306
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Hypospadias, Finger syndactyly, Sensorineural hearing impairment, Dent...	ORPHA:435938
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Hypospadias, Dilation of Virchow-Robin spaces, Microtia, Low-set ...	OMIM:619314
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Umbilical hernia, Long p...	ORPHA:2496
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Thin vermilion border, Retrognathia, Vascular dilatation, Short philtrum, Dental crowding, Gingiv...	OMIM:618343
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Lower-limb joint contracture, Sensorineural hearing impairment, Everted lower li...	ORPHA:459070
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Glomerulopathy, Hematuria, Emphysema, Abnormal heart valve morphology, S...	ORPHA:36412
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Hypogonadism, Cran...	ORPHA:1328
Chromosome 10Q26 Deletion Syndrome	Radial deviation of finger, Sandal gap, Sensorineural hearing impairment, Prominent fingertip pad...	OMIM:609625
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Exertional dyspnea, Stroke, Transient ischemic attack, Anomalous origin of the left com...	ORPHA:99104
Spastic Paraplegia-Nephritis-Deafness Syndrome	Sensorineural hearing impairment, Clinodactyly of the 5th finger, Proteinuria, Nephropathy	ORPHA:2820
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Facial erythem...	OMIM:620321
Takayasu Arteritis	Vasculitis, Ascending tubular aorta aneurysm, Vascular dilatation, Arterial stenosis	ORPHA:3287
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Patent foramen ovale, Hearing impairment, Hydronephrosis, Limb joint contracture...	OMIM:620327
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Optic disc pallor, Tethered cord, Cherry red spot of the macula, Spina bifida occulta	OMIM:615281
Trisomy 10P	Retrognathia, Abnormal heart morphology, Multiple renal cysts, Abnormality of the ear, Abnormalit...	ORPHA:171929
Right Pulmonary Artery, Anomalous Origin Of, Familial	Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc...	OMIM:610338
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Retrognathia, High palate, Low-set ears, Long philtrum, Arthrogryposis multip...	OMIM:619072
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Occipital encephalocele, Radial deviation of finger, Anencephaly, Inte...	OMIM:249000
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Pseudo-Torch Syndrome 1	Jaundice, Petechiae, Patent foramen ovale, High palate, Low-set ears, Cataract, Umbilical hernia,...	OMIM:251290
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphys...	OMIM:122860
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Abnormal systemic arterial morphology, Dilatation of the cerebral artery	ORPHA:730
Hurler Syndrome	Cardiomyopathy, Corneal opacity, Flared iliac wing, Microdontia, Dermatan sulfate excretion in ur...	OMIM:607014
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Short metacarpal, Bone marrow hypocellularity, Mesomel...	OMIM:215140
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissect...	OMIM:300989
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Sensorineural hearing impairment, Pectus carinatum, Large iliac win...	OMIM:253220
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Multiple pterygia, Amyoplasia, Thin ribs, Low-set ears, Cleft up...	OMIM:312150
Aspergillosis	Sinusitis, Diffuse reticular or finely nodular infiltrations, Abnormality of the kidney, Hypersen...	ORPHA:1163
Microphthalmia/Coloboma 12	Optic disc coloboma, Optic nerve aplasia, Chorioretinal coloboma, Remnants of the hyaloid vascula...	OMIM:120200
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis, Optic disc hypoplasia	DECIPHER:70
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Pectus excavatum, Kyphosis, Agenesis of permanent tee...	ORPHA:821
Giant Cell Arteritis	Optic atrophy, Hematuria, Recurrent pharyngitis, Diabetes insipidus, Glossitis, Vertigo, Vasculit...	ORPHA:397
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Astigmatism, Everted lower lip...	OMIM:618067
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm	ORPHA:449291
Even-Plus Syndrome	Recurrent urinary tract infections, Microtia, Patent foramen ovale, High palate, Vesicoureteral r...	OMIM:616854
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Supernumerary tooth, Calcinosis, Metaphyseal striations, Delayed eruption...	ORPHA:2909
Rubinstein-Taybi Syndrome 2	Narrow palate, Short 5th toe, Retrognathia, Short first metatarsal, Increased overbite, Prominent...	OMIM:613684
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Retrognathia, Sensorineural hearing impairment, Adducted thumb, Overlapping t...	OMIM:108120
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Abnormal vena cava morphology, Low-set ears, Short metacarpa...	ORPHA:166035
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Optic nerve hypoplasia, Microtia, Septo-optic dysplasi...	OMIM:301043
Warburg-Cinotti Syndrome	Corneal neovascularization, Dental crowding, Limbal stem cell deficiency, Wrist flexion contractu...	OMIM:618175
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Sacral dimple, P...	OMIM:603467
Chromosome 16Q22 Deletion Syndrome	Hypospadias, Narrow chest, Sensorineural hearing impairment, Wide anterior fontanel, Single trans...	OMIM:614541
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, Forearm unde...	OMIM:249600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Yunis-Varon Syndrome	Rocker bottom foot, Clitoral hypertrophy, Broad secondary alveolar ridge, Absent sternal ossifica...	ORPHA:3472
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Broad distal phalanx of finger, Sensorineural hearing impairment, Pectus excavatum,...	OMIM:619194
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Long philtrum, Genu valgum, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fing...	OMIM:619721
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Cachexia, Retinal atrophy, Kyphosis, Abnormal epiphysis mo...	ORPHA:191
Atelis Syndrome 1	Lumbar kyphosis, Microtia, High palate, Cataract, Bronchiectasis, Hypothyroidism, Carious teeth, ...	OMIM:620184
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Small for gestational age, Patent foramen ovale, Vesicoureteral reflux, Low-set ea...	OMIM:614261
W Syndrome	Hypoplasia of the ulna, Cubitus valgus, Broad uvula, Camptodactyly, Metatarsus adductus, Upper li...	ORPHA:2804
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Auriculocondylar Syndrome 2A	Short mandibular rami, Respiratory distress, Stenosis of the external auditory canal, Dental crow...	OMIM:614669
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Micromeli...	OMIM:215045
Tbck-Related Intellectual Disability Syndrome	Sensorineural hearing impairment, Corneal opacity, Pectus excavatum, Pulmonic stenosis, Long phil...	ORPHA:488632
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Clinodactyly, Transposition of the g...	OMIM:256520
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:216400
German Syndrome	Orofacial cleft, Hearing abnormality, High palate, Everted lower lip vermilion, Arthrogryposis mu...	ORPHA:2077
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Skeletal muscle atrophy, Sacrococcyg...	ORPHA:2840
Wieacker-Wolff Syndrome	Retrognathia, Proximal placement of thumb, Congenital foot contractures, Broad alveolar ridges, H...	OMIM:314580
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Osteogenesis Imperfecta, Type Vii	Hearing abnormality, Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Wide an...	OMIM:610682
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp...	OMIM:184400
Teebi-Shaltout Syndrome	Rocker bottom foot, Small earlobe, Pectus carinatum, Pectus excavatum, Ureteral stenosis, Aortic ...	OMIM:272950
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ...	ORPHA:1263
Neuralgic Amyotrophy	Narrow mouth, Scapular winging, Upper limb muscle weakness, Sprengel anomaly, Cleft palate, Bifid...	ORPHA:2901
Immunodeficiency 23	Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Cantu Syndrome	Erlenmeyer flask deformity of the femurs, Umbilical hernia, Bicuspid aortic valve, Long philtrum,...	OMIM:239850
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Sensorineural hearing impairment, Corneal opacity, ...	OMIM:608670
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Lumbar scoliosis, Cleft ...	OMIM:620269
Sotos Syndrome	Increased body weight, Prolonged neonatal jaundice, Narrow palate, Abnormality of the kidney, Adv...	OMIM:117550
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Retrognathia, Astigmatism, Short philtrum, Everted lower lip vermilion, Failure to thrive, Large ...	OMIM:619556
Micro Syndrome	Optic atrophy, Delayed puberty, Low-set, posteriorly rotated ears, Short philtrum, Hypoplasia of ...	ORPHA:2510
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Dislocated radial head, Delayed os...	OMIM:618395
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Tapered finger, Acrocyanosis	OMIM:302000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Pectus carinatum, Kyphosis, Abnormal epiphysis morphology, Aplasia/Hypoplasi...	ORPHA:3082
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Respiratory distress, Microtia, Low-set ears, Sl...	OMIM:610536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Abnormality of the endocrine system, Pulmonic stenosis, Abnormal heart morphology, ...	ORPHA:438213
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Everted lower lip vermilion, Broad thumb, Wide mouth, Broad phi...	OMIM:619720
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Microtia, Micrognathia, Cleft palate, Abnormality of the out...	ORPHA:2305
Jacobsen Syndrome	Pectus excavatum, Optic atrophy, Hypospadias, Labial hypoplasia, Hydrocephalus, Clitoral hypoplas...	OMIM:147791
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Muscular dystrophy, Abnormality of the temporomandibular joint, Atelectasis, Rec...	ORPHA:258
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Recurrent otitis media, A...	OMIM:620233
Saul-Wilson Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Pectus cari...	OMIM:618150
Tetraamelia-Multiple Malformations Syndrome	Microtia, Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Septo-optic dys...	ORPHA:3301
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, S...	OMIM:263650
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Epiphyseal stippling, Sensorineural hearing impairment, Abnormal pinna morphology...	ORPHA:35173
Seckel Syndrome 1	Clitoral hypertrophy, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Dislocated ...	OMIM:210600
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Broa...	OMIM:616331
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Intestinal malrotation, Biconcave vertebral bodies, Crowd...	OMIM:102500
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Hypoventilation, Respiratory distress, High palate, Low-set ears, Aspiration pneumon...	ORPHA:314655
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Prolonged...	ORPHA:363611
Wolcott-Rallison Syndrome	Jaundice, Decreased body weight, Central hypothyroidism, Hypothyroidism, Metaphyseal dysplasia, C...	ORPHA:1667
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Pleural thickening, Exertional dyspnea, Testicular microlithiasis, Br...	ORPHA:60025
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Cataract, Enamel hypoplasia, Downturned corners of mouth, Decreased circ...	ORPHA:2643
Baraitser-Winter Cerebrofrontofacial Syndrome	Thin vermilion border, Retrognathia, Hydroureter, Microcornea, Scoliosis, Transient ischemic atta...	ORPHA:2995
Lethal Congenital Contracture Syndrome 11	Retrognathia, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Pulmonary ...	OMIM:617194
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
17Q24.2 Microdeletion Syndrome	Microtia, Broad thumb, Pulmonic stenosis, Patent ductus arteriosus after birth at term, Short phi...	ORPHA:529962
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in childhood, Hematuria, Low-set ears, Death in infancy, Micrognathia, Natal tooth, Protein...	OMIM:616901
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal hip bone morphology, Low-s...	ORPHA:1488
Omodysplasia 1	Short humerus, Umbilical hernia, Long philtrum, Fibular hypoplasia, Axillary pterygium, Rhizomeli...	OMIM:258315
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Hypomimic face, Cachexia, 2-3 toe syndactyly, Gingival overgrowth, H...	OMIM:618186
Kyphoscoliotic Ehlers-Danlos Syndrome	Kyphoscoliosis, Sensorineural hearing impairment, Pectus carinatum, Pectus excavatum, Arachnodact...	ORPHA:536545
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Widely spaced teeth, Thoracic kyphosis, Overfolded helix, Low-set ears, Pectus exca...	OMIM:619092
Moebius Syndrome	Aplasia of the pectoralis major muscle, Corneal opacity, Everted lower lip vermilion, Microdontia...	ORPHA:570
X Small Rings	Congenital stationary night blindness, Bicuspid aortic valve, Long philtrum, Premature ovarian in...	ORPHA:96201
Au-Kline Syndrome	Retrognathia, Sensorineural hearing impairment, Microtia, Lipomyelomeningocele, Pectus excavatum,...	OMIM:616580
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Congenital finger flexion contractures, Wide...	ORPHA:363528
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Cerebral arteriov...	OMIM:175050
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Azoospermia, Rig...	OMIM:618300
Congenital Hereditary Endothelial Dystrophy Type Ii	Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr...	ORPHA:293603
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Hypospadias, Dextrocardia, Hypoplasia of penis, Abnormal vag...	ORPHA:2315
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormality of the kidney, Abnormal ilium morphology, Patent duct...	ORPHA:2655
Opitz-Kaveggia Syndrome	Radial deviation of finger, Sensorineural hearing impairment, Dental crowding, Prominent fingerti...	OMIM:305450
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A...	ORPHA:1040
Kabuki Syndrome 1	Prominent fingertip pads, Premature thelarche, Intestinal malrotation, Recurrent aspiration pneum...	OMIM:147920
Trisomy 20P	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Everted lower lip vermilion,...	ORPHA:261318
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Arterial tortuosity, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arteria...	ORPHA:284984
Zechi-Ceide Syndrome	Thin vermilion border, Abnormal earlobe morphology, Short metatarsal, Sandal gap, Short philtrum,...	ORPHA:217017
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia ...	ORPHA:306542
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Oligodontia, Pulmonary sequestration, Low-set ears, Pectus excavatum, Patent ductus ...	OMIM:618330
Diaphanospondylodysostosis	Enlarged kidney, Thoracic hypoplasia, Unossified sacrum, Cystic renal dysplasia, Absent in utero ...	OMIM:608022
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Long philtrum, Overlapping toe, Astigmatism, Sacral dimple, Low-...	ORPHA:480880
Histiocytoid Cardiomyopathy	Optic atrophy, Pulmonary edema, Cyanosis, Hydrocephalus, Corneal opacity, Congenital aphakia, Ren...	ORPHA:137675
Symbrachydactyly Of Hands And Feet	Maternal diabetes, Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abn...	ORPHA:1570
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Retrognathia, Small for gestational age	OMIM:619844
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Thoracic hypoplasia, Coxa valga, ...	OMIM:618363
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Retinal degeneration, Cardiomegal...	ORPHA:391428
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Branchial anomaly, High pala...	ORPHA:1131
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Failure to thrive, Cyanosis, Myopathy	ORPHA:91130
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, Scoliosis, Low-set ears, Abnormality of the dentition, High pala...	ORPHA:776
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Glomerulopathy, Sandal gap, Mandibular prognathia, Scoliosis, Cataract, Macrotia, ...	ORPHA:2715
Triploidy	Hypoplasia of penis, Intestinal malrotation, Wide mouth, Abnormal cardiac septum morphology, Hypo...	ORPHA:3376
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Decreased response to growth hormone stimulation test, Clinodactyly of th...	OMIM:614114
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia	ORPHA:2578
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Mandibular prognathia, Short long bone, Short ribs, Sp...	OMIM:252600
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Meacham Syndrome	Enlarged kidney, Death in infancy, Bicuspid aortic valve, Septate vagina, Congenital alveolar dys...	OMIM:608978
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Small scrotum, Short distal phalanx of finger, Increased densit...	OMIM:269150
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc...	OMIM:602418
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Scoliosis, Ureteral triplication, High palate, Low-set ears, Pectu...	OMIM:104350
Refractory Celiac Disease	Chronic diarrhea, Protein-losing enteropathy, Jejunitis, Villous atrophy	ORPHA:398063
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Short philtrum, Hyperextensibility of the finger joints, Dental crowding, Ascending tubular aorta...	OMIM:309520
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, M...	ORPHA:268249
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Oligomeganephronia	Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat...	ORPHA:2260
Hyperphosphatasia-Intellectual Disability Syndrome	Pectus excavatum, Shortening of all distal phalanges of the fingers, Bifid uvula, Broad philtrum,...	ORPHA:247262
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Syndactyly, Cervical ribs, Long ph...	OMIM:148050
Temtamy Syndrome	Aortic aneurysm	OMIM:218340
9Q21.13 Microdeletion Syndrome	Polydactyly, Syringomyelia, Abnormal tongue morphology, Scoliosis, Vertebral segmentation defect,...	ORPHA:531151
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Bilateral ulnar hypoplasia	OMIM:276821
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Supernumerary tooth, Abnormal aortic valve...	ORPHA:86818
Bardet-Biedl Syndrome 2	External genital hypoplasia, Postaxial hand polydactyly, Retinal degeneration, Obesity, Hypogonad...	OMIM:615981
Transaldolase Deficiency	Thin vermilion border, Clitoral hypertrophy, Short philtrum, Wide anterior fontanel, Patent foram...	OMIM:606003
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Retinal telangiectasia, Hydrocephalus, Optic nerve hypoplasia, Mandibular prognathi...	OMIM:620157
Immunodeficiency 85 And Autoimmunity	Vomiting, Chronic diarrhea, Villous atrophy	OMIM:619510
Combined Oxidative Phosphorylation Deficiency 5	Abnormal renal tubule morphology, Retrognathia, Low-set ears, Hypertrophic cardiomyopathy, Death ...	OMIM:611719
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Short finger, Multiple pterygia, Amyoplasia, Thin ribs, Low-set ears, Microgna...	OMIM:253290
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Hardikar Syndrome	Vertigo, Bilateral cleft palate, Intestinal malrotation, Prolonged neonatal jaundice, Unilateral ...	OMIM:301068
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Optic nerve compression, Narrow chest, Delayed eruption of teeth,...	ORPHA:667
Kleefstra Syndrome 1	Hypospadias, Talipes equinovarus, Abnormal renal morphology, Abnormal pinna morphology, Mandibula...	OMIM:610253
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Hand polydactyly, Coarctat...	ORPHA:261243
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari...	ORPHA:91351
15Q Overgrowth Syndrome	Retrognathia, Mixed hearing impairment, Dental crowding, Abnormality of the incisor, Abnormal ren...	ORPHA:314585
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Urinary incontinence, Limb hypertonia, Aortic aneurysm, High palate, Multiple...	OMIM:620070
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Retrognathia, Small earlobe, Dental crowding, Pectus carinatum, Arachnodactyly, Slender long bone...	OMIM:620083
6Q16 Microdeletion Syndrome	Retrognathia, Microtia, Low-set ears, Abnormal ear morphology, Micrognathia, Obesity, Tapered fin...	ORPHA:171829
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Hypospadias, Low-set ears, Decreased testicular size, Thick vermi...	OMIM:300997
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Generalized abnormality of skin, Vascular dilatation, Atelectasis, Delayed ...	ORPHA:2314
Neurooculocardiogenitourinary Syndrome	Peters anomaly, Abnormality of the palmar creases, Sensorineural hearing impairment, Patent foram...	OMIM:618652
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Micrognathia, Failur...	OMIM:617228
Camptodactyly Syndrome, Guadalajara, Type Iii	Retrognathia, Torticollis, Spina bifida occulta, Abnormal pinna morphology, Absent phalangeal cre...	OMIM:611929
Phace Syndrome	Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Tetralogy of Fall...	ORPHA:42775
Neuroocular Syndrome	Retrognathia, Prominent fingertip pads, Stellate iris, Pectus excavatum, Umbilical hernia, Sacral...	OMIM:619539
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Broad thumb, ...	ORPHA:2001
Wiedemann-Steiner Syndrome	Contracture of the distal interphalangeal joint of the fingers, Long philtrum, Short 5th finger, ...	OMIM:605130
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Optic atrophy, Triphalangeal thumb, Abnormal pinna morphology, Vesicoureteral...	ORPHA:3078
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ...	ORPHA:254361
Catel-Manzke Syndrome	Pectus carinatum, Glossoptosis, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd fi...	OMIM:616145
Ear-Patella-Short Stature Syndrome	Retrognathia, Clitoral hypertrophy, Hypoplasia of penis, Bifid uvula, Abnormal epiphysis morpholo...	ORPHA:2554
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Failure to thr...	OMIM:263000
Walker-Warburg Syndrome	Hypoplasia of penis, Corneal opacity, Abnormal optic nerve morphology, Bifid uvula, Chorioretinal...	ORPHA:899
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Micromelia, Metatarsus adductus, Broad thumb, M...	ORPHA:2249
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Narrow chest, Broad long bon...	OMIM:614376
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Sho...	ORPHA:474
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Cleft hard palate, Rhizomelia, Small epiphyses, Delayed epiphyse...	ORPHA:166016
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in...	OMIM:619466
Chops Syndrome	Optic atrophy, High, narrow palate, Cervical C2/C3 vertebral fusion, Patent foramen ovale, Vesico...	OMIM:616368
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Monosomy 9Q22.3	Rhabdomyosarcoma, Ovarian fibroma, Pectus excavatum, Kyphosis, Retinopathy, Umbilical hernia, Lon...	ORPHA:77301
17Q23.1Q23.2 Microdeletion Syndrome	Chronic otitis media, Bilateral single transverse palmar creases, Sandal gap, Abnormal epiphysis ...	ORPHA:261279
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Bilateral lung agenesis, Low-set ears, R...	OMIM:611812
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh...	ORPHA:90362
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Astigmatism, Gingival overgrowth, Mandibular prognathia...	OMIM:614753
Burn-Mckeown Syndrome	Hypomimic face, Thin vermilion border, Unilateral renal agenesis, Short philtrum, 2-3 toe syndact...	OMIM:608572
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd finger, Broad thumb, Coxa valga, Labial hypoplasia, Scoliosis, Cryptorchi...	OMIM:620073
Acrodysplasia Scoliosis	Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly	ORPHA:2956
Atrial Septal Defect, Ostium Secundum Type	Exertional dyspnea, Stroke, Transient ischemic attack, Dyspnea, Right atrial enlargement, Abnorma...	ORPHA:99103
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Finger syndactyly, Wide anterior fontanel, Abnormal pinna morph...	ORPHA:313781
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Renal hypoplasia/aplasia, Abnormal renal morphology, Hyperlordosis, Pectus excava...	ORPHA:363700
Stickler Syndrome	Chronic otitis media, Spondylolisthesis, Abnormal form of the vertebral bodies, Sensorineural hea...	ORPHA:828
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Widely spaced teeth, Scoliosis, Micr...	OMIM:617364
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:1837
Interatrial Communication	Atrial septal defect, Exertional dyspnea, Sinus venosus atrial septal defect, Recurrent respirato...	ORPHA:1478
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	OMIM:613835
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Platyspondyly, Narrow chest, Flared metaphysis, Wide anterior fontan...	ORPHA:2347
Rin2 Syndrome	Aortic aneurysm	ORPHA:217335
Hennekam Syndrome	Retrognathia, Arteriovenous malformation, Ectopic kidney, Abnormal pinna morphology, Tooth agenes...	ORPHA:2136
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal...	ORPHA:1666
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, 11 pairs of ribs, Proximal placement of th...	OMIM:618624
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Purpura, Respiratory distress, Petechiae, Microtia, Lo...	OMIM:608013
Fragile X Syndrome	Congenital macroorchidism, Metacarpophalangeal joint hyperextensibility, Macroorchidism, postpube...	OMIM:300624
Megabladder, Congenital	Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non...	OMIM:618719
20P12.3 Microdeletion Syndrome	Pectus carinatum, Microtia, Narrow mouth, Broad thumb, Hypoplasia of the maxilla, Malar flattenin...	ORPHA:261295
Congenital Contractural Arachnodactyly	Aortic aneurysm	ORPHA:115
Congenital Heart Block	Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Cyanosis,...	ORPHA:60041
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Sinusitis, Cutis marmorata, Myocarditis, Vasculitis, Transient ischemic a...	ORPHA:183
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Flat acetabular roof, Short long bone, Hypoplastic pelv...	OMIM:616300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Agenesis of permanent ...	ORPHA:251028
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Overjet, Retrognathia, Thick lower lip vermilion, Short philtrum, Hypodontia, Sensorineural heari...	OMIM:618342
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Spinal rigidity, Dental crowding, Pectus excavatum, Thoracic hypoplasia, Triangular...	OMIM:620369
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Camptod...	OMIM:619123
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Hydrocephalus, Kyphosis, Postaxial polydactyly, Vascular ring, Skeletal...	OMIM:603387
Mulchandani-Bhoj-Conlin Syndrome	Retrognathia, 2-3 toe syndactyly, Scoliosis, Hyperlordosis, Failure to thrive, Clinodactyly, Post...	OMIM:617352
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Meckel diverticulum, Hydrocephalus, Low-set ears, Micrognathia, Supernumerary ribs,...	ORPHA:163961
Angelman Syndrome	Optic atrophy, Widely spaced teeth, Astigmatism, Precocious puberty in females, Keratoconus, Mand...	ORPHA:72
Char Syndrome	Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Mesoaxial foot polydactyly, Sym...	ORPHA:46627
Intellectual Developmental Disorder, Autosomal Recessive 41	Retrognathia, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fingertip pads, Hi...	OMIM:615637
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Bronchiectasi...	ORPHA:51636
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Orofacial cleft, Genu valgum, Nephronophthisis, Bell-shaped thorax, Cone-s...	OMIM:615630
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Sensorineural hearing impairment, Microtia, Underdevelop...	OMIM:164210
Renpenning Syndrome 1	Pectus excavatum, Hypospadias, Short philtrum, Phimosis, Scoliosis, Camptodactyly, Hearing impair...	OMIM:309500
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol...	OMIM:617137
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Aganglionic megacolon, ...	ORPHA:210122
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Craniosynostosis-Mental Retardation-Clefting Syndrome	Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Chorioretinal coloboma, Renal dyspl...	OMIM:218650
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Long philtrum, Retrognathia, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Prot...	OMIM:619595
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Coloboma, Low-set ears, Everted lower ...	OMIM:616789
Noonan Syndrome 8	Large for gestational age, Patent ductus arteriosus, Palmoplantar cutis laxa, Abnormal sternum mo...	OMIM:615355
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Excessive w...	OMIM:225400
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Retrognathia, Astigmatism, Tooth malposition, Mandibular prognathia, Scoliosis, Ca...	OMIM:619576
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Sandal gap, Ventricular hypertrophy, Posteriorly rotated ears, T...	OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Hypospadias, Sensorineural hearing impairment, Scoliosis, Low-set ears, U...	OMIM:617751
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Homocystinuria, Dental crowding, Stroke, Pectus carinatum, High palate, Pectus ex...	OMIM:236200
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Superior pectus carinatum, Sensorineural hearing impa...	OMIM:163950
Classic Multiminicore Myopathy	Muscular dystrophy, Spinal rigidity, Nocturnal hypoventilation, Weakness of facial musculature, M...	ORPHA:324604
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Ovarian fibroma, Hamartomatous stomach polyps, Short ribs, A...	OMIM:109400
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Abnormal renal corticomedullary differentiation, Hearing impairment, Pulmon...	OMIM:616733
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Long philtrum, Astigmatism, Solitary median maxillary central incisor, Prox...	ORPHA:261250
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Iris coloboma, Peters anomaly, Hydrocephalus, Optic nerve hypop...	OMIM:243605
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Abnormality of the kidney, Narrow chest, Encephalocele, Short tho...	ORPHA:93274
Fabry Disease	Angiokeratoma corporis diffusum, Abnormality of the hand, Delayed puberty, Ventricular septal hyp...	OMIM:301500
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
Peroxisome Biogenesis Disorder 7A (Zellweger)	Jaundice, Epiphyseal stippling, Wide anterior fontanel, Low-set ears, High palate, Cataract, Deat...	OMIM:614872
Joubert Syndrome 14	Optic atrophy, Morning glory anomaly, Short philtrum, Encephalocele, Hydrocephalus, Meningocele, ...	OMIM:614424
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Dental ...	OMIM:301044
Presynaptic Congenital Myasthenic Syndromes	Kyphoscoliosis, Spinal rigidity, Sensorineural hearing impairment, Pectus carinatum, Apneic episo...	ORPHA:98914
Congenital Myasthenic Syndrome	Kyphoscoliosis, Spinal rigidity, Sensorineural hearing impairment, Pectus carinatum, Apneic episo...	ORPHA:590
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Clinodactyly of the 5th finger, Abnormal heart valve morphology, Dental crowding, High palate, Ab...	ORPHA:2868
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormal antihelix morphology, Microtia, Split hand, Abnormal rib morphology, ...	ORPHA:2145
Kapur-Toriello Syndrome	Orofacial cleft, Iris coloboma, Hypoplasia of penis, Low-set ears, Retinal coloboma, Atresia of t...	ORPHA:2328
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Image Syndrome	Hypospadias, Adrenal hypoplasia, Low-set ears, Micromelia, Hydronephrosis, Metaphyseal dysplasia,...	ORPHA:85173
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:133540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, 2-3 toe syndactyly, Scoliosis, Low-set ears, Ventricular septal d...	ORPHA:404440
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Tracheoesophageal fistula, ...	OMIM:192350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Astigmatism, 11 pairs of ribs, Hypospadias, Dental crowding, Patent foramen ovale, Short long bon...	OMIM:619184
Agnathia-Otocephaly Complex	Situs inversus totalis, Respiratory distress, Synotia, Low-set ears, Narrow mouth, Mandibular apl...	OMIM:202650
Basilicata-Akhtar Syndrome	Retrognathia, Single transverse palmar crease, Abnormal pinna morphology, Low-set ears, Camptodac...	OMIM:301032
Dermatitis, Atopic	Cataract, Keratoconus, Facial erythema, Conjunctivitis	OMIM:603165
Herpes Simplex Virus Stromal Keratitis	Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He...	ORPHA:137599
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,...	OMIM:216340
Congenital Tracheal Stenosis	Abnormal earlobe morphology, Meckel diverticulum, Tracheoesophageal fistula, Abnormality of the k...	ORPHA:141127
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Sensorineural hearing impairment, Abnormal pinna morphology, Broad alveolar ridges, Syndactyly, O...	OMIM:616975
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre...	OMIM:608681
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Pectus excavatum, 2-4 toe s...	OMIM:150230
Netherton Syndrome	Intestinal atresia, Recurrent infection of the gastrointestinal tract, Villous atrophy	OMIM:256500
Fragile X Syndrome	Ascending tubular aorta aneurysm	ORPHA:908
Temple-Baraitser Syndrome	Long philtrum, Pseudoepiphysis of the thumb, Proximal placement of thumb, Broad thumb, Pulmonic s...	OMIM:611816
Frontoocular Syndrome	Narrow philtrum, Low-set ears, High palate, Narrow mouth, Pectus excavatum, Pulmonic stenosis, Mi...	OMIM:605321
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
X-Linked Intellectual Disability, Van Esch Type	Retrognathia, Absence of secondary sex characteristics, Retractile testis, Clinodactyly of the 5t...	ORPHA:163976
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Sensorineural hearing impairment, Death in infancy, Failure to thrive, Left...	OMIM:616974
Orofaciodigital Syndrome V	Sandal gap, Bifid uvula, Aganglionic megacolon, Scoliosis, Postaxial hand polydactyly, Hearing im...	OMIM:174300
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Long philtrum, Retrognathia, Cubitus valgus, Chylothorax, Low-set ears, Pectus excavatum, Cryptor...	OMIM:613563
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Ectopic kidney, Kyphosis, Retinopathy, Abnormal heart morphology, Bicuspid aortic...	OMIM:301111
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Decreased circulating IgG level, Coarctation of aorta, Cleft ...	OMIM:620210
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Scoliosis, High palate, Focal segmental glomerulosclerosis, Ne...	OMIM:301006
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Mixed hearing impairment, Sensorineural hearing impairment, Ventricul...	ORPHA:51608
Cree Mental Retardation Syndrome	Rocker bottom foot, Hypospadias, Cleft soft palate, Coloboma, Bifid scrotum, Low-set ears, Pectus...	OMIM:606851
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Anodontia, Delayed eruption of primary teeth, Widely spaced prim...	ORPHA:90321
Braddock-Carey Syndrome 1	Anteriorly placed anus, Multicystic kidney dysplasia, Talipes equinovarus, Hyperlordosis, Everted...	OMIM:619980
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Abnormality of the epiphysis of th...	ORPHA:93316
Neu-Laxova Syndrome	Retrognathia, Everted lower lip vermilion, Bifid uvula, Hypogonadism, External genital hypoplasia...	ORPHA:2671
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Optic atrophy, Retrognathia, Astigmatism, Short philtrum, Limb hypertonia, Gingival overgrowth, P...	OMIM:616875
Gastritis, Familial Giant Hypertrophic	Vascular dilatation	OMIM:137280
Acces Syndrome	Retrognathia, Clinodactyly of the 5th finger, Low-set ears, Ectrodactyly, Tracheoesophageal fistu...	OMIM:619959
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Proximal tubulopathy, Cardiomyopathy, Kyphosis, Death in infancy, Pericarditis, Fail...	OMIM:212065
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction, Respiratory distress	OMIM:613642
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Wide...	OMIM:252500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Short long bone, Cupped ribs, Tibial bowing, Short ...	OMIM:608940
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Widely spaced teeth, Multiple bladder diverticula, Microtia, Microdontia,...	ORPHA:2728
Acromesomelic Dysplasia 3	Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati...	OMIM:609441
Lymphangioleiomyomatosis	Pneumothorax, Optic atrophy, Retinal hamartoma, Renal neoplasm, Hematuria, Emphysema, Atelectasis...	ORPHA:538
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Small earlobe, Microtia, Short 5th finger, Short finger, Hypospadias, Abnor...	OMIM:619522
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Metacarpophalangeal joint contracture, Sensorineural hearing impairment, Sc...	ORPHA:544503
Vacterl With Hydrocephalus	Retrognathia, Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Tracheoesophageal ...	ORPHA:3412
Raine Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Pectus excavatum, Microdontia, Death in infa...	OMIM:259775
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Hearing impairment, Sh...	OMIM:614749
Coffin-Siris Syndrome 7	Recurrent otitis media, Clinodactyly of the 5th finger, Thick lower lip vermilion, Short philtrum...	OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Microtia, Ventricular septal defect, Intestinal malrotation, Hydronephrosis, Wide mo...	OMIM:617798
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Tinnit...	ORPHA:369929
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, 3-Methylglutaconic aciduria, Retrognathia, Death in childhood, Camptodactyly,...	OMIM:604273
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Patent foramen ovale, Retinal degeneration	ORPHA:542306
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ...	ORPHA:94066
Mend Syndrome	Kyphosis, Aortic valve stenosis, Overlapping toe, Polydactyly, Sacral dimple, Anterior polar cata...	OMIM:300960
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta, Prominent cornea...	OMIM:616559
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Hypospadias, Bilateral cleft palate, High palate, Pectus excavatum, Bilateral clef...	OMIM:618874
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Respiratory distress, Stroke, Cardiomyopathy, Failure to thrive, Renal insufficiency	ORPHA:79312
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Bilateral cleft palate, Wide anterior fontanel, Absent d...	OMIM:619339
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Cyclopia, Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia...	ORPHA:990
Oculoauriculofrontonasal Syndrome	Encephalocele, Microtia, Scoliosis, Narrow mouth, Conductive hearing impairment, Micrognathia, Cl...	ORPHA:398156
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, Bronchiectasis, Decreased circulating IgG level, Abnormal c...	OMIM:241600
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci...	OMIM:100800
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Retinopathy of prematurity, Anterior polar cataract, Microtia, Eclabion, Left ventr...	OMIM:620510
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, Dental crowding, Kyphosis, Wide mouth, Cardiomegaly, Short philt...	OMIM:300967
Microcephaly 8, Primary, Autosomal Recessive	Retrognathia	OMIM:614673
Neuronal Intranuclear Inclusion Disease	Optic atrophy, Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies	ORPHA:2289
Alzahrani-Kuwahara Syndrome	Astigmatism, Hypospadias, Hypodontia, Narrow philtrum, Patent foramen ovale, Low-set ears, Corona...	OMIM:619268
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Pectus excavatum, Left ventricular hypertrophy, Long philtrum, Deep palmar crease, Sh...	OMIM:619127
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Protracted diarrhea, Colitis	OMIM:209920
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory m...	ORPHA:1145
Congenital Myopathy 17	Pectus excavatum, Long philtrum, Overlapping toe, Clinodactyly, Myopathy, Hand clenching, Cleft p...	OMIM:618975
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ectopic kidney, Ventricular septal defect, Optic disc pallor, Death in infancy, Neonatal death, C...	OMIM:613730
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Short thumb, Brachydactyly, Cataract, V...	ORPHA:3449
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Slender long bone, Thin ribs, Vesicoureteral reflux, Decreased body weight, Microgn...	OMIM:618265
Roberts Syndrome	Bilateral single transverse palmar creases, Clitoral hypertrophy, Radial deviation of finger, Mes...	ORPHA:3103
Campomelic Dysplasia	Tibial bowing, Femoral bowing, Short long bone, Kyphosis, Hip dislocation, Fibular hypoplasia, Sc...	ORPHA:140
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion...	OMIM:615873
Coccidioidomycosis	Abnormality of the endocrine system, Broad metatarsal, Pericarditis, Abnormal retinal morphology,...	ORPHA:228123
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Long philtru...	OMIM:166250
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Vesicoureteral reflux, High palate, Elbow flexion contracture, Hearing...	ORPHA:85285
Lethal Recessive Chondrodysplasia	Narrow chest, Respiratory distress, Short long bone, Flared elbow metaphyses, Micromelia, Microgn...	ORPHA:1423
Costello Syndrome	Limited elbow movement, Rhabdomyosarcoma, Pectus carinatum, Pulmonic stenosis, Mitral valve prola...	OMIM:218040
Duodenal Atresia	Duodenal atresia	OMIM:223400
Polyvalvular Heart Disease Syndrome	Short philtrum, Abnormal heart valve morphology, Abnormal pinna morphology, Dental crowding, Low-...	ORPHA:228410
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short philtrum, Hypodontia, Microtia, Thoracic kyphosis, Narrow mout...	OMIM:620250
Alfadhel Syndrome	Thin vermilion border, Retrognathia, Short philtrum, Low-set ears, Nasal flaring, Smooth philtrum...	OMIM:620655
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Urinary incontinence, Rhizomelia, Narrow chest, Respiratory distress, Hyd...	OMIM:616482
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Sensorineural hearing impairment, Hyperlordosis, Arachno...	ORPHA:261330
Stuve-Wiedemann Syndrome 2	Stillbirth, Respiratory distress, Scoliosis, Short long bone, Bowing of the long bones, Camptodac...	OMIM:619751
Apert Syndrome	Corneal erosion, Sensorineural hearing impairment, Broad thumb, Bifid uvula, Narrow palate, Optic...	ORPHA:87
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormality of the bladder, Dyspnea, Failure to t...	ORPHA:79404
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Pectus carinatum, Short long bone, Short ribs, Cone-shaped epiphyses of p...	OMIM:225500
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Abnormal pinna morphology, Scoliosis, Stippled ...	OMIM:302960
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Purpura, Hematuria, Retinal detachment, Vasculitis, Persistence of primary teeth,...	ORPHA:375
Aneurysm Of Sinus Of Valsalva	Dilatation of the sinus of Valsalva, Stroke	ORPHA:1054
Loeys-Dietz Syndrome 6	Arterial tortuosity, Vertebral artery aneurysm, Transient ischemic attack, Aortic tortuosity, Ver...	OMIM:619656
Branchio-Oculo-Facial Syndrome	Premature graying of hair, Orofacial cleft, Coloboma, Low-set, posteriorly rotated ears, Non-midl...	ORPHA:1297
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Jaundice, Small for gestational age, Renal tubular acidosis, Death in infancy, Patent foramen ova...	OMIM:208085
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Optic atrophy, Retrognathia, Astigmatism, Short philtrum, Limb hypertonia, Abnormal pinna morphol...	ORPHA:480898
Noonan Syndrome 11	Low-set ears, Bilateral sensorineural hearing impairment, Hypertrophic cardiomyopathy, Pectus exc...	OMIM:618499
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Thin metacarpal cortices, Corneal opacity, Wrist flexion contracture, Broad metat...	OMIM:259600
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Hip subluxation, Short philtrum, Microtia, Low-set ears, Narrow mouth, Unilateral...	ORPHA:447980
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o...	ORPHA:555874
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Dental crowding, Hyperlo...	ORPHA:2789
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, R...	OMIM:613457
Scleromyxedema	Generalized abnormality of skin, Abnormality of the kidney, Abnormality of the hand, Exertional d...	ORPHA:167635
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Mixed hearing impairment, Limbal stem cell deficiency, Microtia, Micr...	OMIM:149730
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Slc35A2-Cdg	Transient nephrotic syndrome, Abnormality of the hand, Hip subluxation, Elevated circulating thyr...	ORPHA:356961
Galloway-Mowat Syndrome 1	Wide mouth, Optic atrophy, Camptodactyly, Focal segmental glomerulosclerosis, Hypoplasia of the i...	OMIM:251300
Neurooculorenal Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Iris atrophy, Intestinal malrotation,...	OMIM:620305
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Spinal rigidity, Respiratory distress, Scoliosis, Calf muscle hypertrophy, Ca...	ORPHA:86812
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Fucosidosis	Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Corneal opacity, Abnormality of ...	ORPHA:349
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Chronic diarrhea, Ileus, Villous atrophy	OMIM:304790
Familial Bicuspid Aortic Valve	Thoracic aorta calcification, Coarctation of aorta, Aortic arch aneurysm, Ascending aortic dissec...	ORPHA:402075
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Glomerular sclerosis, Retinal neovascularization, Weakness of facial musculature, ...	ORPHA:247691
Popliteal Pterygium Syndrome	Popliteal pterygium, Spina bifida occulta, Bifid scrotum, Cutaneous finger syndactyly, Cleft uppe...	OMIM:119500
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal heart morphology, Atrial...	DECIPHER:39
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Microdontia, Patent foramen ovale, Patent ductus arteriosus, Hip dysplasia, Cataract, D...	OMIM:620005
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Bifid uvula, Irregular femoral...	OMIM:154780
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Interphalangeal thumb joint contracture, Abnormal autonomic nervous system...	OMIM:613870
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Renal hypoplasia/aplasia, Abnormal form of the vertebral...	ORPHA:1788
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Bifid uvula, Long ph...	OMIM:301022
Aortic Arch Interruption	Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Exertional dyspnea, Aort...	ORPHA:2299
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Hypodontia, Narrow mouth, Failure to thrive, Cleft palate, Smooth philt...	ORPHA:1973
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Esophageal atr...	ORPHA:77298
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Distal Deletion 6P	Corneal opacity, Ectopia pupillae, Abnormal epiphysis morphology, Short philtrum, Scoliosis, Abno...	ORPHA:96125
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Clinodactyly of the 5th finger, Proximal placement of thumb, Single transv...	OMIM:618619
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Facial hypotonia, Mandibular prognathia, Scoliosis, Short upper li...	ORPHA:364028
Noonan Syndrome 5	Large for gestational age, Cubitus valgus, Abnormal sternum morphology, Mandibular prognathia, Lo...	OMIM:611553
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short ribs, Everted lower lip vermilion, Microdontia, Pectus excavatu...	OMIM:218330
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Hypoplasia of penis, Camptodactyly of finger, Macroti...	ORPHA:2083
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Hyperlordosis, Low-set ears, Thin upper lip vermilion, Posteriorly ...	OMIM:617450
Al Amyloidosis	Increased circulating antibody level, Abnormal autonomic nervous system physiology, Abnormal hear...	ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Muscular dystrophy, Death in childhood, Encephalocele, Retinal dysplasia, Hydroceph...	OMIM:614643
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Atelectasis, Dextrocardia, Persistent left superi...	OMIM:615067
Orofaciodigital Syndrome Type 4	Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Abnormali...	ORPHA:2753
Osteogenesis Imperfecta, Type X	Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Broad ribs, Fibular bowing, Rhizom...	OMIM:613848
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoosper...	ORPHA:432
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Retrognathia, Beta-aminoisobutyric aciduria, High palate, Arthrogryposis multiplex...	OMIM:615330
Van Maldergem Syndrome 2	Sensorineural hearing impairment, Microtia, Bifid scrotum, Clinodactyly, Short 4th metacarpal, Sa...	OMIM:615546
Blomstrand Lethal Chondrodysplasia	Broad clavicles, Short ribs, Short metacarpal, Mesomelia, Long philtrum, Abnormal epiphysis morph...	ORPHA:50945
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Astigmatism, Short philtrum, Low-set ears, High palate, Cleft palate, Thick vermili...	OMIM:619493
Multiple Epiphyseal Dysplasia Type 4	Abnormal earlobe morphology, Abnormal pinna morphology, Short metacarpal, Broad femoral neck, Abn...	ORPHA:93307
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Exertional dyspnea, Death in childhood, Respiratory distress, Sensorineural hearin...	OMIM:220110
Fixed Subaortic Stenosis	Atrioventricular canal defect, Exertional dyspnea, Cardiomegaly, Patent ductus arteriosus, Bacter...	ORPHA:3092
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Amelia, Tracheoesophageal fis...	ORPHA:2538
Desbuquois Dysplasia 1	Developmental glaucoma, Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral ...	OMIM:251450
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Congenital Disorder Of Glycosylation, Type Il	Villous atrophy	OMIM:608776
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Macroglossia, Conotruncal defect, Abnormal testis morphology, Everted lower ...	ORPHA:96147
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Hammertoe, Claw hand deformity, Sensorineural hearing impairment, Distal upper limb amyotrophy, F...	OMIM:614455
Wiedemann-Rautenstrauch Syndrome	Small earlobe, Short humerus, Hypoplastic facial bones, Long philtrum, Long toe, Clinodactyly, Ge...	OMIM:264090
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Triangular mou...	ORPHA:98915
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Pectus excavatum, Telangiectasia, Narrow palate, Decr...	OMIM:234100
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Pectus excavatum, Bifid uvula, Overlapping toe, Scoliosis, Ulnar deviation of the...	OMIM:114300
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Short ribs, Short metacarpal, Abnormal forearm b...	ORPHA:3404
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Scoliosis, Spina bifida occulta	OMIM:618736
Pitt-Hopkins Syndrome	Wide mouth, Thickened helices, Aganglionic megacolon, Astigmatism, Short philtrum, Tooth malposit...	ORPHA:2896
Spondylo-Ocular Syndrome	Thin vermilion border, Platyspondyly, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia...	ORPHA:85194
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Abnormal phalangeal joint morphology of the hand, Intestin...	ORPHA:90291
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Recurrent respiratory infections, Abnormal form of the vertebral ...	ORPHA:2759
Multiple Pterygium-Malignant Hyperthermia Syndrome	Broad alveolar ridges, Pectus excavatum, Kyphosis, Arachnodactyly, Long philtrum, Small scrotum, ...	ORPHA:2215
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Vaginal dryness, Hypospadias, Supernumerary nipple, Conical tooth, Palmoplan...	OMIM:106260
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, Wide anterior fontanel, H...	OMIM:619736
Neural Tube Defects, Susceptibility To	Sacral dimple, Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry ...	OMIM:182940
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Recurrent otitis media, Short philtrum, Renal tubular acidosis, Anterior pol...	OMIM:619575
Juberg-Hayward Syndrome	Hypoplasia of the radius, Orofacial cleft, Abnormal vertebral morphology, Abnormality of the wris...	ORPHA:2319
Autosomal Dominant Cutis Laxa	Corneal opacity, Adducted thumb, Hip dislocation, Scoliosis, Bronchiolitis, Dilatation of the ven...	ORPHA:90348
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Posterior subcapsular cataract, Abnormal corneal e...	ORPHA:364055
Coffin-Siris Syndrome 12	Sensorineural hearing impairment, Pectus excavatum, Broad thumb, Noncommunicating hydrocephalus, ...	OMIM:619325
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Finger syndactyly, Hydrocephalus...	ORPHA:1647
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Thick lower lip vermilion, Abnormal sternum morphology, Pectus carinat...	ORPHA:137634
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h...	ORPHA:314795
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Dental crowding, Scoliosis, Decreased serum lept...	OMIM:614008
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Low-set ears, High palate, Camptodactyly, Narrow mouth, Nephrotic syndrome,...	OMIM:617729
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Narrow chest, Respiratory distress, Thin ribs, Femora...	OMIM:618188
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Abnormal form of the vertebral bodies, Pectus carinatum, Pectu...	ORPHA:3107
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Pectus carinatum, K...	OMIM:183900
Restrictive Dermopathy	Ureteral duplication, Temporomandibular joint ankylosis, Thoracic kyphoscoliosis, Microcolon, Apl...	ORPHA:1662
Lethal Congenital Contracture Syndrome 2	Degenerative vitreoretinopathy, Arthrogryposis multiplex congenita, Micrognathia, Hydronephrosis,...	OMIM:607598
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Arthrochalasia Ehlers-Danlos Syndrome	Retrognathia, Scoliosis, Coxa vara, Micrognathia, Hip dysplasia, Avascular necrosis of the capita...	ORPHA:1899
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Respiratory distress, Scoliosis, High palate, Congenital contracture, Death in inf...	OMIM:615042
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption	ORPHA:309108
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Narrow chest, Oligodactyly, Low-set ears, Narrow mouth, Missing ribs, Forear...	OMIM:251230
Tetraploidy	Renal hypoplasia/aplasia, Radial club hand, Short philtrum, Micrognathia, Cleft palate, Hypoplasi...	ORPHA:3305
Omodysplasia 2	Dislocated radial head, Dyspareunia, Broad femoral neck, Short humerus, Long philtrum, Bilateral ...	OMIM:164745
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, Retrognathia, Abnormal f...	ORPHA:3015
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Generalized aminoaciduria, Respiratory distress, Renal cortical cyst...	OMIM:231680
Cantú Syndrome	Abnormal metaphysis morphology, Long philtrum, Platyspondyly, Cardiomegaly, Patent ductus arterio...	ORPHA:1517
Ohdo Syndrome	Long philtrum, Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Stenos...	OMIM:249620
20Q11.2 Microduplication Syndrome	Tented philtrum, Retrognathia, Limited elbow extension, Sacral dimple, Clinodactyly of the 5th fi...	ORPHA:363659
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Respiratory distress, Short thorax, Enlarged thora...	ORPHA:66637
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation...	ORPHA:1394
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Recurrent otitis media, Absent cupid's bow, Abnormal Eustachian tube...	ORPHA:513456
Gm1 Gangliosidosis Type 1	Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie...	ORPHA:79255
Agel Amyloidosis	Keratoconjunctivitis sicca, Corneal ulceration, Dermatological manifestations of systemic disorde...	ORPHA:85448
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate...	ORPHA:2632
19P13.12 Microdeletion Syndrome	Sandal gap, Sensorineural hearing impairment, Abnormal pinna morphology, Kyphosis, Long philtrum,...	ORPHA:254346
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Craniosynostosis 6	Sensorineural hearing impairment, Scoliosis, Spina bifida occulta	OMIM:616602
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Retrognathia, Proximal placement of thumb, Sensorineural hearing impairment, Long philtrum, Adduc...	OMIM:604314
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Ventricular septal defect, Pyloric stenosis, Malar flattening, Patent...	OMIM:218350
Spondyloocular Syndrome	Femur fracture, Duodenal ulcer, Sensorineural hearing impairment, Pectus carinatum, Arachnodactyl...	OMIM:605822
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Narrow chest, Short long bone, Bilateral talipes equinovarus, Patent d...	OMIM:620454
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Submucous cleft hard palate, Failure to thrive, Bifid uvula, Absent thumb, Atr...	OMIM:619239
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Generalized amyotrop...	OMIM:613561
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Enlargement of the costochondral junction, Metaphyseal...	OMIM:260400
Cranioacrofacial Syndrome	Pulmonic stenosis, Abnormal hand morphology, Ventricular septal defect, Dupuytren contracture	OMIM:122850
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Abnormality of the kidney, Mild hearing impairment, W...	ORPHA:459061
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Episodic vomiting, Ileoileal intussusception, Secretory diarrh...	OMIM:619377
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Situs inversus totalis, Sensorineural hearing impairment, Stroke, Cardiomyopathy, ...	OMIM:249270
Adnp Syndrome	Urinary incontinence, Sandal gap, Abnormal finger morphology, Microtia, Broad thumb, Abnormal toe...	ORPHA:404448
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
9Q31.1Q31.3 Microdeletion Syndrome	Short clavicles, Mandibular prognathia, Renovascular hypertension, Type II diabetes mellitus, Bic...	ORPHA:401923
Periventricular Nodular Heterotopia 1	Short finger, Stroke, Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Bicuspid aortic ...	OMIM:300049
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept...	OMIM:601927
Brain-Lung-Thyroid Syndrome	Sensorineural hearing impairment, Megacystis, Abnormal cardiac septum morphology, Hypospadias, Pa...	ORPHA:209905
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Abnormal heart morphology, Optic atrophy, Jaundice, Hemolytic-uremic syndrome, Hydrocephalus, Fai...	ORPHA:79282
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm	OMIM:618891
Congenital Myopathy 12	High, narrow palate, High palate, Camptodactyly, Jaw contracture, Pulmonary artery stenosis, Arac...	OMIM:612540
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Dental crowding, Pectus excavatum, Microdontia, Wide mouth, Overlapping toe, Hip dis...	OMIM:618268
Retinitis Pigmentosa	Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Hyperinsu...	ORPHA:791
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Low-set ears, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Postaxial hand polydactyly, Crypt...	OMIM:615948
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Adrenal gland agenesis, Hydrocepha...	OMIM:273395
Cog5-Cdg	Retrognathia, Genu valgum, Urinary incontinence, Premature skin wrinkling, Sensorineural hearing ...	ORPHA:263487
Mucopolysaccharidosis, Type X	Broad clavicles, Hyperlordosis, Vitreous floaters, Dermatan sulfate excretion in urine, Aortic va...	OMIM:619698
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, Urinary incontinence, Astigmatism, Joint contracture of the 5th finger, Absent earl...	OMIM:619934
Warsaw Breakage Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, High palate,...	OMIM:613398
Eec Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Corneal erosion, Sensorineural hearing imp...	ORPHA:1896
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Increased arm span, Thin metacarpal cortices, Lumbar hemivertebrae, Thin metatarsal cortices, Sle...	ORPHA:2463
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Retrognathia, Hypoplastic female external genitalia, Hypoventilation, Sensorineura...	OMIM:606056
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Retrognathia, Broad ...	ORPHA:2636
Arthrogryposis, Distal, Type 12	Spinal rigidity, Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalan...	OMIM:620545
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Long philtrum, Retrognathia, Intestinal pseudo-obstruction, Finger syndactyly, Low-set ears, Feta...	ORPHA:73246
Cardiac Valvular Dysplasia 2	Ascending tubular aorta aneurysm, Pulmonary artery dilatation	OMIM:620067
Aarskog-Scott Syndrome	Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Broad philtrum, Elevat...	OMIM:305400
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, External genital hypoplasia, Narrow palm, Iris hypopigmenta...	ORPHA:177910
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hypospadias...	ORPHA:2522
Baraitser-Winter Syndrome 2	Orofacial cleft, Retrognathia, Abnormal pinna morphology, Coloboma, Hearing impairment, Wide mout...	OMIM:614583
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abnormality of the kidney, Hypertrophic cardiomyopathy, Failure to thrive, Prote...	ORPHA:369
Orofaciodigital Syndrome Xix	Retrognathia, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palate, Midline notchi...	OMIM:620107
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Retrognathia, Decreased sensory nerve conduction velocity, Scoliosis, High palate, Decreased moto...	OMIM:619026
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Muscular dystrophy, Skeletal muscle hypertrophy, Abnormal...	ORPHA:370959
Joubert Syndrome 37	Low-set ears, High palate, Postaxial polydactyly, Decreased testicular size, Obesity, Hydronephro...	OMIM:619185
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chylopericardium, Pleural effusion, Pulmonic stenosis, Cyanosis	ORPHA:2414
Hydrolethalus	Retrognathia, Gingival cleft, Low-set, posteriorly rotated ears, Abnormal fallopian tube morpholo...	ORPHA:2189
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion cont...	ORPHA:206549
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalan...	OMIM:601355
Bardet-Biedl Syndrome 20	Astigmatism, 2-3 toe syndactyly, Postaxial hand polydactyly, Bilateral cryptorchidism, Retinal va...	OMIM:619471
Sarcosinemia	Optic atrophy, Peroneal muscle weakness, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hypersar...	ORPHA:3129
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus, Foam cells, Renal insufficiency, Proteinuria	OMIM:245900
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Triphalangeal thumb, Low-set, posteriorly r...	ORPHA:245
Van Maldergem Syndrome 1	Sensorineural hearing impairment, Microtia, Clinodactyly, Short 4th metacarpal, Sacral dimple, Hy...	OMIM:601390
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve, Hydroureter, Stenosis of the external auditory canal, Microtia, Dental cro...	OMIM:616367
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Kyphoscoliosis, Oligosacchariduria, Patent ductus arteriosus, Sensorineural hearing impairment, D...	ORPHA:397709
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Sensorineural hearing impairment, Ureteral stenosis...	ORPHA:900
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis, Sensorineural hearing impairment, Hydronephrosis, Hydroureter	OMIM:264140
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Astigmatism, Dental crowding, Persistence of primary teeth, Umbilical hernia, Overweight, Recurre...	OMIM:619769
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel...	OMIM:201170
Ververi-Brady Syndrome	Transposition of the great arteries, Clinodactyly of the 5th finger, Scoliosis, Low-set ears, Eve...	OMIM:617982
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, High palat...	OMIM:618347
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Retrognathia, Prominent fingertip pads, Hyperlordosis, Microdontia, Eclabion, Wide mouth, Thicken...	OMIM:619950
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal middle ear morphology, Accessory oral frenulum, Abnormal antihelix morphology, Microtia,...	ORPHA:79113
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Recurrent lower respiratory tract infections, High palate, Renal arter...	OMIM:617913
Diamond-Blackfan Anemia 7	Recurrent otitis media, Triphalangeal thumb, Scoliosis, Vesicoureteral reflux, Esophagitis, Heari...	OMIM:612562
Immunodeficiency, Common Variable, 8, With Autoimmunity	Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Atrophic gastritis, Colitis	OMIM:614700
Spondylosis, Cervical	Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta	OMIM:184300
Distal Deletion 3P	Abnormal vestibulo-ocular reflex, Thin vermilion border, Atrioventricular canal defect, Clinodact...	ORPHA:1620
Rabin-Pappas Syndrome	Hypoventilation, Retrognathia, Retinal telangiectasia, Hydrocephalus, Sensorineural hearing impai...	OMIM:620155
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu...	OMIM:156530
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defec...	OMIM:620183
Vici Syndrome	Everted upper lip vermilion, Sensorineural hearing impairment, Cardiomyopathy, Abnormal thymus mo...	OMIM:242840
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpholo...	ORPHA:2180
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic hernia, Upper limb u...	OMIM:613630
Gaucher Disease	Delayed puberty, Increased circulating antibody level, Corneal opacity, Death in infancy, Retinop...	ORPHA:355
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Exertional dyspnea, Patent ductus arteriosus, Subarteri...	ORPHA:99094
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses...	OMIM:300232
Adams-Oliver Syndrome 1	Encephalocele, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Cleft upper lip, Clef...	OMIM:100300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Abnormal thumb morphology, Mandibular prognathia, Abnormal atrioventricular valve...	ORPHA:324410
Cohen-Gibson Syndrome	Retrognathia, Long ear, Flared metaphysis, Hypoplastic iliac wing, Scoliosis, Low-set ears, Campt...	OMIM:617561
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma, Decr...	OMIM:215250
Johnson Neuroectodermal Syndrome	Protruding ear, Microtia, Facial palsy, Everted lower lip vermilion, Atresia of the external audi...	ORPHA:2316
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Wrinkly Skin Syndrome	Neonatal wrinkled skin of hands and feet, Pectus excavatum, Microdontia, Kyphosis, Umbilical hern...	OMIM:278250
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Hypoplasia of penis, Split hand, Postaxial hand polydactyly, Micromelia...	ORPHA:2491
Grant Syndrome	Abnormal palate morphology, Narrow chest, Open bite, Abnormal pelvic girdle bone morphology, Bowi...	ORPHA:2097
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Corneal erosion, Short philtrum, Corneal u...	OMIM:609460
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormal palate morphology, Bilateral single transverse palmar creases, Low-set, p...	ORPHA:44
Klippel-Trénaunay Syndrome	Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency, Peripheral arteriovenous fi...	ORPHA:90308
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Kyphoscoliosis, Bilateral single transverse palmar creases, Pectus carinatum,...	ORPHA:488642
Galloway-Mowat Syndrome 5	Mandibular prognathia, Focal segmental glomerulosclerosis, Hearing impairment, Proteinuria, Large...	OMIM:617731
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Testicular atrophy, Decreased testicular size, Small scrotum, Cryptorchidism, Microp...	OMIM:308700
Epidermal Nevus Syndrome	Aortic aneurysm	ORPHA:35125
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Long ear, Short philtrum, Galactosuria, Abnormal cardiac septum morpholo...	ORPHA:85276
Oculoectodermal Syndrome	Bladder exstrophy, Astigmatism, Giant cell granuloma of mandible, Microcornea, Chorioretinal atro...	OMIM:600268
Al-Gazali Syndrome	Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ...	OMIM:609465
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Pulmonary Capillary Hemangiomatosis	Ground-glass opacification, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary...	ORPHA:199241
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atr...	ORPHA:93946
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Atelectasis, Respiratory distress, Microscopic hematuria, Ecchymosis, Oligu...	ORPHA:319213
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ...	ORPHA:209959
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Short philtrum, Joint contracture of the 5th finger, Single transverse palmar creas...	OMIM:620098
Chilton-Okur-Chung Neurodevelopmental Syndrome	Asymmetry of the thorax, Sensorineural hearing impairment, Pectus excavatum, Septo-optic dysplasi...	OMIM:619841
Hypoglossia With Situs Inversus	Situs inversus totalis, Respiratory distress, Narrow mouth, High palate, Low-set ears, Micrognath...	OMIM:612776
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Hyperlordosis, Shor...	OMIM:272460
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Dental crowdin...	OMIM:615485
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Retrognathia, Sandal gap, Hypoplasia of penis, Hydrocephalus, Abnorma...	ORPHA:1812
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short long bone, Short ribs, Intestin...	OMIM:263520
Melas	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Proximal tubulopathy, Cardiomyop...	ORPHA:550
Schimmelpenning-Feuerstein-Mims Syndrome	Kyphoscoliosis, Abnormality of dental color, Abnormal finger morphology, Coloboma, Corneal opacit...	OMIM:163200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Kyphoscoliosis, Mixed hearing impairment, Cleft soft palate, Microcornea, Aortic rupture, Conduct...	OMIM:614557
Coffin-Siris Syndrome	Thick lower lip vermilion, Hypospadias, Horseshoe kidney, Delayed eruption of teeth, Scoliosis, V...	ORPHA:1465
Simple Cryoglobulinemia	Pericarditis, Abnormal heart morphology, Abnormality of the kidney, Vascular skin abnormality, Va...	ORPHA:91139
Genitopatellar Syndrome	Clitoral hypertrophy, Hypoplastic ischia, Malrotation of small bowel, Small scrotum, Enlarged lab...	OMIM:606170
Marshall-Smith Syndrome	Optic atrophy, Retrognathia, Slender long bone, Gingival overgrowth, Scoliosis, Bowing of the lon...	ORPHA:561
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Hydroureter, Talipes equinovarus, Pectus carinatum, Pe...	OMIM:100100
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Holoprosencephaly 2	Solitary median maxillary central incisor, Bilateral cleft palate, Bifid uvula, Bilateral cleft l...	OMIM:157170
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Dental crowding, Mandibular prognathia, Low-set ...	OMIM:612469
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Anencephaly, Narrow chest, Accessory oral ...	OMIM:616546
Orofaciodigital Syndrome Type 1	Chronic otitis media, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Cone-shaped...	ORPHA:2750
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Right aortic arch, Hearing impairment, Hypothyroidism, Fema...	OMIM:617577
Erdheim-Chester Disease	Abnormal metaphysis morphology, Abnormal pulmonary interstitial morphology, Abnormal aortic valve...	ORPHA:35687
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, High p...	OMIM:618282
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Gingival...	ORPHA:96191
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio...	OMIM:168000
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Hydrocephalus, Hearing impair...	OMIM:309801
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short metacarpal, Renal cyst, Macrotia, Micrognathia, Metaphyseal dysplasia, Thick ...	OMIM:250410
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Sandal gap, Microtia, Pectus excavatum, Short philtrum, Scoliosi...	OMIM:612530
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microtia, Microdontia, Split foot, Ureterocele, Transverse vaginal septum, Decreased response to ...	OMIM:129900
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ...	OMIM:605373
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short philtrum, Pectus carinatum, Scoliosis, Prominent fingertip pads, High palate, Hyperlordosis...	OMIM:300986
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Recurrent urinary trac...	OMIM:613680
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Scoliosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity...	OMIM:611555
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Gonadal dysgenesis, Renal hypoplasia/aplasia, Low-set...	ORPHA:1770
Phelan-Mcdermid Syndrome	Long philtrum, Abnormality of the kidney, Widely spaced teeth, Clinodactyly of the 5th finger, Sa...	OMIM:606232
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Otosclerosis, Femoral bowing, Hearing impairment, Biconcave flattened vertebrae,...	OMIM:166200
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Retrognathia, Triangular mouth, Cutaneous photosensitivity, Microcornea, ...	OMIM:601675
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Respiratory distress, Reduced muscle carnitine level, Cardiomyopathy, Hype...	OMIM:212140
Kyphomelic Dysplasia	Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ...	ORPHA:2774
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Spondyloenchondrodysplasia	Pneumonia, Decreased response to growth hormone stimulation test, Hematuria, Platyspondyly, Delay...	ORPHA:1855
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Renal insufficiency, Pleural effusio...	ORPHA:330001
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Epiphyseal stippling, Polycystic kidney dysplasia, Wide anterior fontanel, L...	OMIM:614859
Microphthalmia, Syndromic 6	Retrognathia, Female hypogonadism, Bifid uvula, Small scrotum, Polydactyly, Abnormality of the ha...	OMIM:607932
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology	ORPHA:3222
Dubowitz Syndrome	Syndactyly, Sacral dimple, Hypospadias, Hypoplasia of the iris, Cryptorchidism, Carious teeth, Pr...	OMIM:223370
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Anencephaly, Abnormal sternum morphology, Abnormal tibia morphol...	ORPHA:1335
Hunter-Macdonald Syndrome	Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Cubitus valgus, Sensorineural hearin...	OMIM:611962
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased size of the mandible, Low-set ears, Congenital shortened...	OMIM:300048
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Narrow chest, Low-set ears, Ventricular septal defect, High p...	OMIM:615102
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Polycystic kidney dysplasia, Abnormal pinna morphology, Wide anterior fontanel...	ORPHA:26791
Aa Amyloidosis	Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Nephrotic syndrome, Hypothyroidi...	ORPHA:85445
Achondrogenesis Type 1B	Talipes equinovarus, Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Micrognathi...	ORPHA:93298
Stiff Skin Syndrome	Elbow flexion contracture, Cataract, Camptodactyly, Knee flexion contracture, Bicuspid aortic valve	OMIM:184900
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Ventricular septal hypertrophy, Abnormal a...	OMIM:615280
Holoprosencephaly 14	Aqueductal stenosis, Cyclopia, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Low...	OMIM:619895
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Hypoplastic isc...	OMIM:200600
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Decreased circulating antibody level, High palate, Low-set ears, Decreased circulat...	OMIM:614069
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Cyanosis, Exertional dyspnea, Abnormality of masticatory muscle, Scoliosis, ...	ORPHA:98913
Generalized Glucocorticoid Resistance Syndrome	Infertility, Oligozoospermia, Adrenal hyperplasia, Precocious puberty, Female pseudohermaphroditi...	ORPHA:786
Cutis Laxa, Autosomal Recessive, Type Iic	Kyphoscoliosis, Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Overlapp...	OMIM:617402
Pmm2-Cdg	Kyphoscoliosis, Retrognathia, Abnormal pinna morphology, Photoreceptor layer loss on macular OCT,...	ORPHA:79318
Usher Syndrome Type 1	Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abn...	ORPHA:231169
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Recurrent urinary tract infections, Coloboma,...	OMIM:611961
Legius Syndrome	Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoli...	ORPHA:137605
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Death in childhood, Focal segmental glomerulosclerosis, Hearing impairme...	OMIM:301108
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Butterfly vertebrae, Incomplete partition of the cochlea type II, Sensorineural hearing impairmen...	OMIM:617660
Intellectual Developmental Disorder, Autosomal Recessive 65	Contracture of the proximal interphalangeal joint of the 4th finger, Thin vermilion border, Astig...	OMIM:618109
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Rectovaginal fistula, Short philtrum, Short lingual frenulum, Low-set ...	OMIM:608980
Transaldolase Deficiency	Abnormality of the kidney, Abnormal clitoris morphology, Premature skin wrinkling, Coarctation of...	ORPHA:101028
Marbach-Rustad Progeroid Syndrome	Femur fracture, Ventricular septal hypertrophy, Short clavicles, Eruption failure, Narrow mouth, ...	OMIM:619322
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morphology, Microdonti...	OMIM:164200
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Micro...	ORPHA:2994
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microtia, Pectus excavatum, Microdon...	OMIM:613458
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent lower respiratory tract infections, Delayed eruption of teeth, Noncompaction cardiomyop...	ORPHA:508542
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Enlarged kidney, Cyanosis, Respiratory distress, Hydrocephalus, Cardiomyopathy, ...	OMIM:261740
Idiopathic Chronic Eosinophilic Pneumonia	Generalized abnormality of skin, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pn...	ORPHA:2902
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Uraciluria, Astigmatism, Deep palmar crease, Delayed eruption of teeth, Microcornea...	ORPHA:1675
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Braddock-Carey Syndrome 2	Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ...	OMIM:619981
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Respiratory distress, Sensorineural hearing impairment, Weakness of ...	ORPHA:2596
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof...	ORPHA:3068
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Bifid scrotum, Tracheoes...	OMIM:107480
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Dislocated radial head, Sensor...	OMIM:619512
Igg4-Related Kidney Disease	Enlarged kidney, Pericarditis, Increased circulating IgG4 level, Urinary bladder inflammation, Ac...	ORPHA:449395
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Short metacarpal, Um...	ORPHA:1001
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Optic nerve hypoplasia, Attenuation of retinal blood vessels, Sacrococcygeal piloni...	ORPHA:468631
Poems Syndrome	Erectile dysfunction, Increased circulating antibody level, Metaphyseal sclerosis, Clubbing of fi...	ORPHA:2905
Peho Syndrome	Optic atrophy, Retrognathia, Tented upper lip vermilion, Open mouth, Tapered finger	OMIM:260565
Xfe Progeroid Syndrome	Optic atrophy, Premature ovarian insufficiency, Cutaneous photosensitivity, Prematurely aged appe...	OMIM:610965
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Blind vagina, Retrognathia, Penoscrotal hypospadias, Glandular hypospadias, Thin ribs, Bifid scro...	ORPHA:456328
Weill-Marchesani Syndrome 3	Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha...	OMIM:614819
Immunodeficiency 95	Increased circulating IgG3 level, Ground-glass opacification, Respiratory distress, Recurrent vir...	OMIM:619773
Timothy Syndrome	Pneumonia, Bronchitis, Patent foramen ovale, Ventricular septal defect, Microdontia, Hypothyroidi...	OMIM:601005
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Hearing impairment, Enamel hypoplasia, Nephrotic s...	OMIM:618349
Acrocallosal Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Triphalangeal thumb, Hypospadias, ...	ORPHA:36
Toluene Embryopathy	Thin vermilion border, Low-set ears, Micrognathia, Hydronephrosis, Smooth philtrum, Abnormal loca...	ORPHA:1920
Noonan Syndrome 14	Limited elbow extension, High, narrow palate, Deep palmar crease, Cubitus valgus, Pectus carinatu...	OMIM:619745
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Dyspnea, Right atrial enlarge...	ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 43	Short philtrum, Increased overbite, Attached earlobe, Microtia, Gingival overgrowth, High palate,...	OMIM:616977
Macs Syndrome	Dilation of Virchow-Robin spaces, Aortic aneurysm	OMIM:613075
Cerebrofacioarticular Syndrome	Caudal appendage, Anal stenosis, Hypospadias, Microtia, Narrow mouth, Camptodactyly, Irregular de...	ORPHA:314679
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Muscular dystrophy, Spinal rigidity, Transposition of the great arteries, Encephal...	OMIM:253800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Palmoplantar cutis gyrata, Abnormality of primary teeth, Narrow mouth, Gingivitis...	ORPHA:75496
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
3Q29 Microduplication Syndrome	Aniridia, Sandal gap, Ectopic anus, Low-set ears, Abnormality of the dentition, High palate, Camp...	ORPHA:251038
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Long philtrum, Protruding ear, Sandal gap, Recurrent bronchitis, Mandibular prognathia, Optic ner...	OMIM:620330
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Anis...	OMIM:224410
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T...	ORPHA:70587
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Hypo...	ORPHA:15
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microtia, Microdontia, Split foot, Ureterocele, Urethral stenosis, Transverse...	OMIM:604292
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Death in childhood, Hypospadias, Low-set ears, Hypertrophic cardiomy...	OMIM:614052
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Cyanotic episode, Bilateral talipes equinovarus, Failure to thrive in ...	ORPHA:284417
Dysosteosclerosis	Abnormal metaphysis morphology, Optic atrophy, Craniofacial hyperostosis, Delayed eruption of tee...	ORPHA:1782
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Microphthalmia, Syndromic 1	Kyphoscoliosis, Radial deviation of finger, Renal hypoplasia/aplasia, Dental crowding, Abnormal p...	OMIM:309800
Craniometadiaphyseal Dysplasia	Genu valgum, Cubitus valgus, Flared metaphysis, Dental crowding, Wide anterior fontanel, Mandibul...	OMIM:269300
Chromosome 13Q14 Deletion Syndrome	Everted lower lip vermilion, Umbilical hernia, Overlapping toe, Hip dislocation, Patent foramen o...	OMIM:613884
Gaba-Transaminase Deficiency	Retrognathia, Death in childhood	OMIM:613163
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Long upper lip, Low-set ears, High palate, Decreased testicular size, Mic...	OMIM:300215
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Ventricular hypertrophy, Pectus excavatum, Tachypnea, Decreased ...	OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly	Exertional dyspnea, Cardiomegaly, Apneic episodes in infancy, Mixed total anomalous pulmonary ven...	ORPHA:99125
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Glomerulopathy, Corneal erosion, Recurrent urinary trac...	ORPHA:33001
Vascular Hyalinosis	Diarrhea, Protein-losing enteropathy, Hematochezia	OMIM:277175
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Maxillozygomatic hypoplasia, Low-set ears, Narrow mouth, Death ...	ORPHA:1790
Kawasaki Disease	Myocarditis, Cheilitis, Abnormal pulmonary interstitial morphology, Jaundice, Recurrent pharyngit...	ORPHA:2331
D-Bifunctional Protein Deficiency	Retrognathia, Decreased nerve conduction velocity, Hammertoe, Split hand, Low-set ears, High pala...	OMIM:261515
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va...	ORPHA:1880
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Bifid scrotum, Kyphosis, Broad philtrum, Bicuspid aortic valve, Jaundice, Hyposp...	OMIM:619475
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:251274
Metachondromatosis	Pulmonic stenosis, Posteriorly rotated ears, Bowing of the long bones	OMIM:156250
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula,...	OMIM:620186
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Small earlobe, Everted lower lip vermilion, Long philtrum, Clinodactyly...	OMIM:608156
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormality of the urethra, Abnormal metacarpal morphology, Abnorma...	ORPHA:2907
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Wide anterior fontanel, Death in infancy, Hydronephrosis, Optic disc pallor	OMIM:618240
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology	ORPHA:3405
Transketolase Deficiency	Increased level of ribose in urine, Secondary amenorrhea, Patent foramen ovale, Renal cyst, Heari...	ORPHA:488618
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Traboulsi Syndrome	Short finger, Retrognathia, Cubitus valgus, Spherophakia, Homocystinuria, Phakodonesis, High pala...	OMIM:601552
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Everted lower lip vermilion, Pectus excavatum, Umbilical hernia, Long philtrum, A...	ORPHA:1519
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypoplasia of the primary teeth, Conjunctival icterus, Primary hypothyroidi...	OMIM:243800
Rabson-Mendenhall Syndrome	Premature graying of hair, Clitoral hypertrophy, Dental crowding, Cardiomyopathy, Retinopathy, Ne...	ORPHA:769
Bent Bone Dysplasia Syndrome 2	Hypoplastic iliac wing, Femoral bowing, Short ribs, Short lower limbs, Butterfly vertebrae, Bowed...	OMIM:620076
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Short long bone, Corneal opacity, Short metacarpal, Cupped ribs, Re...	ORPHA:85167
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Ure...	OMIM:614527
Tetraamelia Syndrome 2	Bilateral lung agenesis, Hypoplastic pulmonary veins, Amelia, Low-set ears, Glossoptosis, Ankylog...	OMIM:618021
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Ventricular septal defect, Death in infancy, Microgna...	ORPHA:452
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Increased carrying angle, Cataract, Pulmonary lymphangie...	OMIM:247410
Holzgreve Syndrome	Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abno...	ORPHA:2167
Craniolenticulosutural Dysplasia	High iliac wing, Bifid uvula, Wide mouth, Posterior Y-sutural cataract, Long philtrum, Optic atro...	OMIM:607812
Orofaciodigital Syndrome Type 10	Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso...	ORPHA:2756
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Pearson Syndrome	Steatorrhea, Cardiomyopathy, Bone marrow hypocellularity, Abnormal heart morphology, Pancreatic f...	ORPHA:699
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Hypertrophic cardiomyopathy, Death in infancy, Increased varia...	OMIM:604377
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Exertional dyspnea, Bilateral sensorineural hearing impairment, Hypertrophic cardi...	ORPHA:436271
Carey-Fineman-Ziter Syndrome	Long philtrum, Thin vermilion border, Aplasia of the pectoralis major muscle, Glandular hypospadi...	ORPHA:1358
Supravalvular Aortic Stenosis	Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis	OMIM:185500
Criss-Cross Heart	Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi...	ORPHA:1461
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Astigmatism, Unde...	ORPHA:369950
Saethre-Chotzen Syndrome	Microtia, Partial duplication of the distal phalanx of the 2nd finger, Abnormal heart morphology,...	OMIM:101400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Large placenta, Single transverse palmar crease, Exaggerated cupid's bow, Prominent...	ORPHA:254528
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Decreased response to growth hormone stimulation test, Wide anterior fonta...	OMIM:601853
Aicardi-Goutieres Syndrome 9	Optic atrophy, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Sco...	OMIM:619487
Restrictive Dermopathy 2	Rectal prolapse, Respiratory distress, Short clavicles, Overtubulated long bones, Hypoplastic fac...	OMIM:619793
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Hypospadias, Wide anterior font...	OMIM:300000
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Vaginal fistula, Coloboma, Hemivertebrae, Anal atresia, Simple ear, Bicuspid aorti...	OMIM:619318
Smith-Kingsmore Syndrome	Long philtrum, Short proximal phalanx of finger, Large for gestational age, Rhizomelia, Deep palm...	OMIM:616638
Seckel Syndrome 10	Slender long bone, Retinal detachment, Ventricular hypertrophy, Glycosuria, Metaphyseal widening,...	OMIM:617253
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale, Gingival overgrowth, Scoliosis, Protruding tongue, Failure to thrive, Hydro...	OMIM:619179
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Coloboma, Anterior encephalocele, Low-set ears, Scoliosis,...	OMIM:601357
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Cor...	ORPHA:439232
Pulmonic Stenosis And Deafness	Hearing impairment, Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Rhizomelic Chondrodysplasia Punctata, Type 5	Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Coxa vara, Irr...	OMIM:616716
Severe X-Linked Mitochondrial Encephalomyopathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Respiratory distress	ORPHA:238329
Branchial Arch Syndrome, X-Linked	High, narrow palate, Low-set ears, High palate, Hearing impairment, Pulmonic stenosis, Protruding...	OMIM:301950
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Optic atrophy, Limited elbow extension, Hypospadias, Respiratory distress, Hydroce...	OMIM:123790
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Aplasia of the vagina, Thin ribs, Short ribs, Aplasia of the uterus, Scoliosis,...	OMIM:271520
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, ...	OMIM:614262
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Asymmetry of the th...	ORPHA:744
17Q11 Microdeletion Syndrome	Delayed puberty, Rhabdomyosarcoma, Pheochromocytoma, Gastrointestinal stroma tumor, Kyphosis, Pul...	ORPHA:97685
Nijmegen Breakage Syndrome	Dysgammaglobulinemia, Rhabdomyosarcoma, Sandal gap, Sinusitis, Cleft palate, Recurrent pneumonia,...	OMIM:251260
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating antibody level, Failure to th...	OMIM:617744
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy, Umbilical hernia	OMIM:254120
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Abnormal helix morphology, Hypertrophic cardiomyopathy, Pulmon...	ORPHA:638
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Weakness of facial musculature, Respiratory distress, Scoliosis, Spinal muscular atrophy, Recurre...	ORPHA:254875
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Stillbirth, Talipes equinovarus,...	OMIM:615415
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Cyst of the ductus choledoch...	OMIM:619480
Pleural Mesothelioma	Respiratory distress, Pleural effusion, Dyspnea, Obstruction of the superior vena cava, Abnormal ...	ORPHA:50251
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa...	ORPHA:2521
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal vein occlusion, Retinal detachment, Retinal vascula...	ORPHA:94058
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, High palate, Narrow mouth, Cardiomyopathy, Spinal muscular atrophy, Increas...	OMIM:616866
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Recurrent myoglobinuria, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:607426
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Toxic Epidermal Necrolysis	Corneal erosion, Abnormal vagina morphology, Respiratory distress, Intestinal perforation, Dysuri...	ORPHA:537
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Sensorineural hearing impairment, Pectus carinatum, Corneal opacity, Pe...	ORPHA:309282
Noonan Syndrome 7	Large for gestational age, Deep palmar crease, Cubitus valgus, Pectus carinatum, Scoliosis, Low-s...	OMIM:613706
Retinitis Pigmentosa 89	Retinal thinning, Esophageal varix, Postaxial polydactyly, Bicuspid aortic valve, Hyperautofluore...	OMIM:618955
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Death in childhood, Wide anterior fontanel, Death in infancy, Cardiomegaly, Failure to thrive in ...	OMIM:619064
Meacham Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal vagina morphology, Pulmonary seque...	ORPHA:3097
Gorham-Stout Disease	Mandibular pain, Abnormal ethmoid bone morphology, Abnormal femur morphology, Abnormal facial ske...	ORPHA:73
Hypotonia-Cystinuria Syndrome	Retrognathia, Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Cystinosis, Nephropathic	Recurrent corneal erosions, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, R...	OMIM:219800
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Narrow palate, Long philtrum, Thick lower lip vermilion, Scoliosis, Dyspnea, Pectus excavatum, Ri...	ORPHA:555877
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:619269
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Renal hypoplasia, Cutis marmorata, Foot oligodactyly, Synda...	OMIM:616589
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3...	OMIM:236500
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Coronary artery fistula, Di...	OMIM:614294
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tachypnea, Di...	OMIM:614299
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Microtia, Miscarriage, Short distal phalanx of finger, Abnormality o...	ORPHA:2438
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Deep palmar crease, Abnormal preputium morphology, Short philtrum, Cleft soft palat...	ORPHA:293725
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Azoospermia, Abnormality of the vertebral column, Bico...	OMIM:601076
Chronic Thromboembolic Pulmonary Hypertension	Exertional dyspnea, Right atrial enlargement, Inflammation of the large intestine, Obesity, Right...	ORPHA:70591
Familial Nasal Acilia	Atelectasis, Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal sternum morphology, Pulmonary sequ...	ORPHA:2847
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, External genital hypoplasia, Recurrent respiratory infections, Respiratory distres...	ORPHA:329178
Fibrochondrogenesis	Abnormal metaphysis morphology, Hearing abnormality, Abnormal diaphysis morphology, Bell-shaped t...	ORPHA:2021
Lead Poisoning	Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m...	ORPHA:330015
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, High, narrow palate, Short philtrum, Hydrocephalus, Low-set ears, High palate, Cong...	OMIM:620156
Loeys-Dietz Syndrome	Vascular dilatation, Arterial tortuosity, Aortic aneurysm, Arterial dissection, Aortic dissection...	ORPHA:60030
Alström Syndrome	Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Abnormal vestibular ...	ORPHA:64
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Dilation of Virchow-Rob...	OMIM:615273
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Sacral dimple, Wide anterior fontanel, Pectus excavat...	OMIM:618272
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Rhizomelia, Respiratory distress, Zonular cataract, Micrognathia, Re...	OMIM:616271
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Gastrointestinal eosinophilia, Intussusception, Villous atr...	OMIM:614162
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Recurrent otitis media, Transposition of the great arteries, Patent ductu...	OMIM:620570
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Angiokeratoma corporis diffusum, Abnormality of the urinary system, ...	OMIM:230500
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Detrusor sphincter dyssynergia, Retrognathia, Urinary incontinence, Sudden episod...	ORPHA:466722
Multiple Osteochondromas	Intestinal obstruction, Abnormal femur morphology, Cervical myelopathy, Abnormal lower limb bone ...	ORPHA:321
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu valgum, Medullary nephrocalcinosis, Pulmonic stenosis, Hypoplasia of teeth, Carious teeth, H...	OMIM:613312
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia, Respiratory distress, Infertility, Hearing impairment, Sinu...	OMIM:606763
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ...	ORPHA:178303
Trichohepatoenteric Syndrome 1	Large placenta, Jaundice, Hypospadias, Galactosuria, Microtia, Decreased circulating antibody lev...	OMIM:222470
Alkaptonuria	Coronary artery calcification, Aortic aneurysm	OMIM:203500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic diarrhea, Villous atrophy	OMIM:606367
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Failure to thrive, Recurren...	ORPHA:60032
Methimazole Embryofetopathy	Coarctation of aorta, Abnormal aortic morphology	ORPHA:1923
Deeah Syndrome	Retrognathia, Death in adolescence, Death in infancy, Long philtrum, Narrow palate, Decreased res...	OMIM:619004
Spondylocostal Dysostosis 5	Butterfly vertebrae, Syringomyelia, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Sup...	OMIM:122600
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Slender long bone, Abnormal form...	ORPHA:1486
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Broad ribs, Absent paranasal sinuse...	OMIM:224300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Low-set ears, Renal cyst, Coarctation of a...	OMIM:617260
Split-Hand/Foot Malformation 3	Abnormal pinna morphology, Narrow mouth, High palate, Split hand, Camptodactyly, Hypoplasia of th...	OMIM:246560
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh...	OMIM:271665
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Sensorineural hearing impairment, Coloboma, Renal d...	OMIM:617107
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Retinal dystrophy, Abnormality of the dentition, Pulmonic stenosis, Macrotia, Enamel hypoplasia, ...	OMIM:615802
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Limb hypertonia, Respiratory distress, Glandular hypospadias, Pulmonary hypoplasia,...	OMIM:620306
Eisenmenger Syndrome	Atrioventricular canal defect, Cyanosis, Exertional dyspnea, Respiratory distress, Vertigo, Bacte...	ORPHA:97214
Papillorenal Syndrome	Sensorineural hearing impairment, Stage 5 chronic kidney disease, Renal malrotation, Lens luxatio...	OMIM:120330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Palmoplantar keratoderma, Conical tooth, Fin...	ORPHA:1071
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Syndromic Diarrhea	Villous atrophy, Gastritis, Panhypogammaglobulinemia, Polycystic kidney dysplasia, Hypoplasia of ...	ORPHA:84064
Myotonic Dystrophy 2	Oligozoospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:602668
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr...	ORPHA:263479
Hypoplastic Left Heart Syndrome	Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:2248
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Urinary incontinence, Kyphosis, Long philtrum, Hip dislocation, Scoliosis, Cl...	OMIM:301041
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Retinal detachment, Prim...	OMIM:249310
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Cleft soft palate, Microtia, Male pseudohermaphroditism, Hearing impairment, Short n...	ORPHA:2282
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Vascular dilatation, Angioid streaks of the fundus, Excessive wr...	ORPHA:758
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal en...	ORPHA:280195
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:90791
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Sensorineural hear...	OMIM:252010
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Immunodeficiency, Common Variable, 6	Enlarged kidney, Purpura, Recurrent respiratory infections, Complete or near-complete absence of ...	OMIM:613496
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Sensorineural hearing impairment, Everted lower lip vermilion, Death in infa...	ORPHA:847
Auriculocondylar Syndrome	Dental crowding, Abnormal pinna morphology, Mandibular condyle hypoplasia, Glossoptosis, Vein of ...	ORPHA:137888
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Retrognathia, Elbow flexion contracture, Low-set ears, Hip contracture, Hand clenc...	OMIM:617301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microdontia, Death in infancy, Thoracic hypoplasia, Triangular mouth, Elbow flexion contracture, ...	OMIM:300868
Branchiooculofacial Syndrome	Premature graying of hair, Proximal placement of thumb, Sensorineural hearing impairment, Microti...	OMIM:113620
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Recurrent otitis media, Sacral dimple, Scoliosis, High palate, Lower limb hypertonia, Dextrotrans...	OMIM:619995
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79094
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia of the uterus, Aplasia/Hypoplasia involving the pelvis, Tracheoesoph...	ORPHA:2879
Liver Disease, Severe Congenital	Left atrial enlargement, Biliary hyperplasia, Umbilical hernia, Cardiomegaly, Jaundice, Hypospadi...	OMIM:619991
Developmental And Epileptic Encephalopathy 30	Death in infancy, Respiratory distress	OMIM:616341
Kyphomelic Dysplasia	Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy...	OMIM:211350
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Ectopic kidney, Unilateral renal agenesis, Small for gestational age, P...	OMIM:610832
Pulmonary Arteriovenous Malformation	Ischemic stroke, Cyanosis, Bacterial endocarditis, Clubbing, Transient ischemic attack, Pleural e...	ORPHA:2038
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Dental crowding, Short metacarpal, Long philtrum, Short distal phalanx of finger, A...	OMIM:617157
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Meningocele, Short hard palate, Hydranencepha...	ORPHA:1393
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Pleuritis, Coxa vara, Camptodactyly of toe, Camptoda...	ORPHA:2848
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ...	OMIM:617205
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo...	ORPHA:85450
Cutis Laxa, Autosomal Recessive, Type Ia	Vascular tortuosity, Ascending tubular aorta aneurysm, Peripheral pulmonary artery stenosis	OMIM:219100
Bor Syndrome	Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Stenosis of the external auditory ca...	ORPHA:107
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Achondrogenesis Type 1A	Narrow chest, Short thorax, Micromelia, Short palm, Micrognathia, Multiple rib fractures, Umbilic...	ORPHA:93299
Tularemia	Abnormal pulmonary thoracic imaging finding, Increased circulating antibody level, Respiratory di...	ORPHA:3392
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Free Sialic Acid Storage Disease	Abnormality of the upper limb, Nephrotic syndrome, Iris hypopigmentation, Proteinuria, Aplasia/Hy...	ORPHA:834
Hematuria, Benign Familial, 2	Microscopic hematuria, Sensorineural hearing impairment, Proteinuria, Abnormal glomerular basemen...	OMIM:620320
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Kyphosis, Secundum atrial septal defect, Microretrognathia, Patent ductus arteri...	OMIM:619909
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Abnormal pinna morphology, Total anomalous pulmonary venous return, C...	ORPHA:261183
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, Missing ribs, I...	ORPHA:1759
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea	OMIM:267450
Acquired Partial Lipodystrophy	Glomerulopathy, Hearing impairment, Microscopic hematuria, Proteinuria, Myopathy, Progeroid facia...	ORPHA:79087
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Elevated urinary epinephrine level, Elevated urinary dopamine level, Paroxysmal vertigo...	ORPHA:29072
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Facial palsy, Failure to thrive, Rib ...	OMIM:614688
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Respiratory distress, Paradoxical respiration, High palate, Recurren...	OMIM:620011
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Abnormal tricuspid valve morphology, Odontogenic keratocys...	ORPHA:199276
Short Syndrome	Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Excessive wrinkled skin...	ORPHA:3163
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Kyphosis, Hearing...	OMIM:259420
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Corneal erosion, Oligodactyly, Corneal opacity, Kyphosis, Abnormality of the kidney, A...	ORPHA:2273
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Madelung deformity, Ulnar bowing, Corneal opacity, Microdontia, Micromelia, Aplasia/Hy...	ORPHA:1765
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bilateral renal agenesis, Low-set ears, Bicornuate uterus, Pulmonary hypoplasia, Pr...	OMIM:191830
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Retrognathia, Single transverse palmar crease, Microtia, Mandibular prognathia, Low-set ears, Dee...	OMIM:620535
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Atresia of the external auditory canal, Me...	OMIM:601356
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Annular pancreas, Irregular epiphyses, Delayed pubi...	OMIM:618162
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Failure to thrive, Paroxysmal dyspnea, Right ventricular hypertrophy...	ORPHA:444013
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent otitis media, Astigmatism, Torticollis, Enuresis nocturna, Downturned corners of mouth,...	OMIM:619680
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Mandibular prognathia, M...	ORPHA:2252
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Acrofrontofacionasal Dysostosis 2	Sacral dimple, Hypospadias, Wide anterior fontanel, Bifid scrotum, Low-set ears, High palate, Bro...	OMIM:239710
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Deviation of the hallux, Aplasia of the epiglottis, Low-set, pos...	ORPHA:434179
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Scalp-Ear-Nipple Syndrome	Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Bifid uvula, Posteriorly rotated ear...	OMIM:181270
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Progressive clavicular acroosteolysis, De...	OMIM:608612
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Optic atrophy, Hearing abnormality, Palmoplantar cutis gyrata, Aplasia/Hypoplasia ...	ORPHA:1555
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Kyphosis, Hypogonadism, Hypothalamic luteinizing ho...	ORPHA:398069
Deafness-Hypogonadism Syndrome	Abnormal spermatogenesis, Hypergonadotropic hypogonadism	ORPHA:90646
Rothmund-Thomson Syndrome Type 2	Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene...	ORPHA:221016
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Tracheoesophageal fistula, Aplasia of the 1st metacarpal, Bone marrow hypocellula...	OMIM:227646
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Respiratory ...	OMIM:115197
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Retinal atrophy, Pectus excavatum, Bone marrow hypocellularity, Abnormal retinal mo...	ORPHA:2785
Amish Lethal Microcephaly	Optic atrophy, Cleft soft palate, Limb hypertonia, Organic aciduria, Spina bifida, Death in infan...	ORPHA:99742
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Wide anterior fontanel, Congenital hip dislocation, Hearing impairment, ...	ORPHA:357058
Postinfectious Vasculitis	Increased circulating antibody level, Cardiomyopathy, Cutis marmorata, Palpable purpura, Abnormal...	ORPHA:48435
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Respiratory distress, Patent foramen ovale, Tachypnea, Pericardia...	ORPHA:26793
Meier-Gorlin Syndrome 3	Clitoral hypertrophy, Absent sternal ossification, Microtia, Short ribs, Small scrotum, Genu varu...	OMIM:613803
Sneddon Syndrome	Ischemic stroke, Livedo, Stroke, Facial palsy, Cutis marmorata, Cerebral hemorrhage, Bicuspid aor...	OMIM:182410
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Enlargement of the costochondral junction, Genera...	ORPHA:289157
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin vermilion border, Short philtrum, Respiratory distress, Macrotia, Micrognathia, Failure to t...	ORPHA:261304
Proboscis Lateralis	Optic nerve hypoplasia, Corneal opacity, Ureteral agenesis, Long philtrum, Duplication of renal p...	ORPHA:141099
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Clubbing, Death in...	OMIM:610921
Larsen-Like Syndrome	Kyphoscoliosis, Recurrent otitis media, Clinodactyly of the 5th finger, Wide anterior fontanel, L...	OMIM:608545
Three M Syndrome 2	Long philtrum, Small for gestational age, Slender long bone, Delayed eruption of teeth, Pectus ca...	OMIM:612921
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Prematurely aged appearance, Wide anterior fontanel, Mandibula...	ORPHA:2963
Waardenburg Syndrome Type 2	Premature graying of hair, Abnormality of the kidney, Aganglionic megacolon, Sensorineural hearin...	ORPHA:895
Primary Hyperoxaluria	Optic atrophy, Hematuria, Aciduria, Choroidal neovascularization, Calcium oxalate nephrolithiasis...	ORPHA:416
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Pectus excavatum, Kyphosis, Short humerus, Long philtrum, Broa...	OMIM:304150
Bloom Syndrome	Retrognathia, Cheilitis, Bronchitis, Retinopathy, Telangiectasia, Azoospermia, Decreased circulat...	ORPHA:125
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Limb hypertonia, Sensorineural hearing impairment, Scoliosis, Atrial septal defect	ORPHA:457351
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Diaphyseal dysplasia, Thick lower lip vermilion, Platyspondyly, Optic n...	OMIM:619727
Bdv Syndrome	Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo...	OMIM:619326
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Short thorax, Postaxial h...	ORPHA:93271
Cystinosis	Delayed puberty, Nephropathy, Corneal opacity, Nephrogenic diabetes insipidus, Retinopathy, Failu...	ORPHA:213
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Protruding ear, Astigmatism, Iridodonesis, Short philtrum, ...	ORPHA:2479
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Microdontia, Tooth agenesis, Hypogonadism, Genu varum, Telangiectasia, Finger s...	ORPHA:221008
Mucopolysaccharidosis, Type Iiid	Broad alveolar ridges, Hypoplastic vertebral bodies, Wide mouth, Thickened ribs, Elbow flexion co...	OMIM:252940
Fgfr2-Related Bent Bone Dysplasia	Congenital stationary night blindness, Clitoral hypertrophy, Bell-shaped thorax, Short clavicles,...	ORPHA:313855
Meier-Gorlin Syndrome 5	Slender long bone, Small earlobe, Microtia, Elbow dislocation, Low-set ears, Hypoplasia of the ma...	OMIM:613805
Cranioectodermal Dysplasia 3	Widely spaced teeth, Nephronophthisis, Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, ...	OMIM:614099
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Purpura, Arteriovenous malformation, Finger syndactyly, Retinal detachment, Scol...	ORPHA:1556
16P13.11 Microdeletion Syndrome	Cyclopia, Sensorineural hearing impairment, Exaggerated cupid's bow, Low-set ears, Ventricular se...	ORPHA:261236
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Limited elbow movement, Increased overbite, Abnormal hand morphology, High palate, ...	ORPHA:319171
Norrie Disease	Delayed puberty, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Sensorineural hearing impa...	ORPHA:649
Pseudo-Torch Syndrome 3	Acute kidney injury, Death in infancy, Apnea, Cerebral hemorrhage, Proteinuria, Cardiomegaly	OMIM:618886
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, M...	OMIM:614407
Q Fever	Myocarditis, Abnormal vascular morphology, Abnormal pulmonary interstitial morphology, Purpura, H...	ORPHA:781
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Horseshoe kidney, Short hallux, Finger syndactyly, Stenosis of the external ...	ORPHA:93260
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Intellectual Developmental Disorder, Autosomal Recessive 78	Kyphoscoliosis, Retrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Narrow chest, Senso...	OMIM:620237
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Astigmatism, Deep palmar crease, Cubitus valgus, Duplicated collecting...	OMIM:607721
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Pectus excavatum, Aortic valve stenosis, Wide mouth, ...	OMIM:231050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Cervical spinal canal stenosis, Tarsal synostosis, Scoliosis...	OMIM:178110
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Recurrent mandibular subluxations, Spontaneous neonatal pneumothorax, Gingival hyperkeratosis, Gi...	OMIM:225410
Axenfeld-Rieger Syndrome, Type 3	Sensorineural hearing impairment, Microdontia, Hypoplasia of the iris, Posterior embryotoxon, Mal...	OMIM:602482
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Abnorma...	ORPHA:116
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Thick vermilion border	OMIM:615979
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Scoliosis, Cryptorchidism, Precocious puberty, Intestinal malrota...	OMIM:616682
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sensorineural hearing impairment, Keratoconus, Failure to thrive, Conjunctivitis, Palmoplantar ke...	OMIM:242150
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Aganglionic megacolon, Retinal dystrophy, Vesicoureteral reflux, Narro...	ORPHA:261222
Microform Holoprosencephaly	Orofacial cleft, Cyclopia, Iris coloboma, Solitary median maxillary central incisor, Maternal dia...	ORPHA:280200
Meckel Syndrome	Ureteral duplication, Anencephaly, Pancreatic fibrosis, Abnormal chorioretinal morphology, Optic ...	ORPHA:564
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandible, Wide an...	ORPHA:85184
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Sensorineural hearing impairment, Stage 5 chronic kidney disease, Uterine neoplasm, Abnormality o...	ORPHA:1018
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Death in ...	OMIM:265120
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short philtrum, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the ...	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met...	ORPHA:93351
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Recurrent pharyngitis, Renal insufficiency, Pericarditis, Bone ...	ORPHA:549
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Monosomy 13Q34	Abnormal earlobe morphology, Postaxial hand polydactyly, Pulmonic stenosis, Common atrium, Microg...	ORPHA:96168
Pontocerebellar Hypoplasia, Type 1F	Long philtrum, Retrognathia, Thick vermilion border, Smooth philtrum	OMIM:619304
Myasthenic Syndrome, Congenital, 19	Retrognathia, Spinal rigidity, Recurrent lower respiratory tract infections, Barrel-shaped chest,...	OMIM:616720
Cleidocranial Dysplasia 2	Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif...	OMIM:620099
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Patent foramen ovale, Notched primary central incisor, Corneal opacity,...	OMIM:620519
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Respiratory distress, Cardiomyopathy, Failure to thrive, Stage 5 chronic k...	OMIM:251000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Everted lower lip vermilion, Asymmetric septal hyper...	OMIM:252930
Hypermethioninemia Due To Adenosine Kinase Deficiency	Sensorineural hearing impairment, Pulmonic stenosis, Failure to thrive, Coarctation of aorta, Sec...	OMIM:614300
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Paten...	ORPHA:79076
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Oral ulcer, Myositis, Pleural effusion, Dyspnea, Ne...	ORPHA:93552
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re...	ORPHA:1652
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Single transverse palmar crease, Gingival overgrowth, Nephroti...	OMIM:619428
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Miscarriage, Cleft u...	ORPHA:96181
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Pericardial eff...	ORPHA:411703
Usher Syndrome Type 3	Vestibular hypofunction, Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morpholo...	ORPHA:231183
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Recurrent otitis media, Narrow chest, Pectus carinatum, Scoliosis, Low-set e...	OMIM:619525
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Intracranial hemorrhage, Aortic aneurysm	ORPHA:109
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Dental crowding, Hyperlordosis, Pectus excavatum, Hypoxemia, Abnormal heart morph...	ORPHA:2020
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Pseudo-Torch Syndrome 2	Petechiae, Thin ribs, Pleural effusion, Abnormal renal corticomedullary differentiation, Secundum...	OMIM:617397
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia, Urinary incontinence	OMIM:618402
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:605809
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Hypospadias, Aortic valve atresia, Low-set ears, Bilateral superior vena cava, H...	OMIM:220111
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Homocystinuria, Respiratory distress, Slender finger, Failure to thrive, Methylmalonic ...	OMIM:250940
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Narrow chest, Abnormal renal morphology, Femoral bowing, Narro...	ORPHA:83
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Anterior polar ca...	OMIM:250420
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:161900
Multifocal Atrial Tachycardia	Ventricular septal defect, Dyspnea, Hypertrophic cardiomyopathy, Pulmonic stenosis, Tachypnea, Hy...	ORPHA:3282
Cardiofaciocutaneous Syndrome 3	Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Failure to thrive, W...	OMIM:615279
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Mixed hearing impairment, Unilateral renal agenesis, Cervical C2/C3 ve...	OMIM:118100
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Corneal ulceration, Chylothorax, Kyphosis, Cleft upper lip, Micrognat...	OMIM:153400
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormality iris morphology, Hypergonadotropic hypogonadism, Cle...	ORPHA:250999
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom...	ORPHA:54370
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy, Dicarboxylic aciduria	ORPHA:79159
Webb-Dattani Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Hyposthe...	OMIM:615926
46,Xy Sex Reversal 4	Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Sensorineural hearing impai...	OMIM:154230
Auriculocondylar Syndrome 3	Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Q...	OMIM:615706
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Malaria	Retinopathy, Acute kidney injury, Respiratory distress	ORPHA:673
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Stroke, Dyspnea, Proteinuria, Renal insufficiency	ORPHA:54057
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Pheochromocytoma, Pituitary adenoma, Parathyroid adenoma, Noncommunicating h...	ORPHA:805
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Polycystic kidney dysplasia, 2-3 toe syndactyl...	OMIM:617866
Hermansky-Pudlak Syndrome 10	Retrognathia, Abnormal pulmonary interstitial morphology, Low-set ears, Macrotia, Apnea, Smooth p...	OMIM:617050
Galloway-Mowat Syndrome	Aqueductal stenosis, Abnormal intervertebral disk morphology, Abnormality of the dentition, Nephr...	ORPHA:2065
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Hypothyroidism, Mitral valve prolapse, Brachyd...	ORPHA:1563
Mucopolysaccharidosis, Type Iiib	Asymmetric septal hypertrophy, Hearing impairment, Ovoid thoracolumbar vertebrae, Recurrent upper...	OMIM:252920
Myasthenic Syndrome, Congenital, 6, Presynaptic	Sudden episodic apnea, Respiratory distress, Apneic episodes precipitated by illness, fatigue, st...	OMIM:254210
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Bamforth-Lazarus Syndrome	Retrognathia, Congenital hypothyroidism, Cleft palate, Thyroid agenesis	ORPHA:1226
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Short philtrum, Subcutaneous hemorrhage, Clinodactyly, Protei...	OMIM:603585
Autosomal Dominant Omodysplasia	Ambiguous genitalia, Rhizomelia, Hypoplasia of penis, Elbow dislocation, Bifid scrotum, Short pal...	ORPHA:93328
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Homocystinuria, Stomatitis, Glossitis, Microtia, Cystathioninuria, Low-set ears, Hi...	OMIM:277380
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Kyphoscoliosis, Joint contracture, Respiratory distress	OMIM:617977
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Kyphoscoliosis, Distal amyotrophy, Respiratory distress	OMIM:619099
Joubert Syndrome 35	Recurrent urinary tract infections, Pectus carinatum, Single transverse palmar crease, Low-set ea...	OMIM:618161
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Finger syndactyly, Hydrocephalus, Resp...	ORPHA:93259
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ...	ORPHA:794
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Abnormality of the adrenal glands, Hypospadias,...	ORPHA:139466
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Delaye...	ORPHA:226313
C3 Glomerulopathy	Acute kidney injury, Hematuria, Drusen, Central serous chorioretinopathy, Yellow/white lesions of...	ORPHA:329918
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ...	OMIM:617006
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Myocardial eosinophilic infiltration, Clubbing, Transient ischemic attack, ...	ORPHA:3260
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm	ORPHA:3093
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal palate morphology, Tarsal synostosis, Hypospadias, Short t...	ORPHA:85199
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Vascular dilatation, Emphysema, Recurrent urinary tra...	ORPHA:90349
Hypophosphatasia	Abnormal metaphysis morphology, Emphysema, Narrow chest, Abnormality of the dentition, Bowing of ...	ORPHA:436
Trichothiodystrophy 8, Nonphotosensitive	Protruding ear, Long philtrum, Retrognathia, Thin upper lip vermilion	OMIM:619691
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, Hypoplastic aortic arch, Aplasia of th...	ORPHA:457284
Coffin-Lowry Syndrome	Sensorineural hearing impairment, Pectus carinatum, Short metacarpal, Everted lower lip vermilion...	OMIM:303600
Aicardi-Goutieres Syndrome 1	Purpura, Diabetes insipidus, Petechiae, Vasculitis, Cardiomyopathy, Hypothyroidism, Prolonged neo...	OMIM:225750
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Low-set ears, Everted lower lip vermilion, Overfolded helix, Micrognathia, Anterior...	OMIM:617101
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Emphysema, Abnormal heart valve morphology, Arachnodactyly, Flex...	ORPHA:171719
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Camptodactyl...	ORPHA:3201
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Developmental glaucoma, Aortic aneurysm, Myositi...	ORPHA:51
Hypomagnesemia 3, Renal	Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Astigm...	OMIM:248250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Astigmatism, Renal cortical cysts, Wide anterior fontanel, Scoliosis, Vesicoureteral reflux, Dias...	OMIM:618548
Noonan Syndrome 6	Sensorineural hearing impairment, Abnormal sternum morphology, Low-set ears, Pectus excavatum, Hy...	OMIM:613224
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Protein-losing enteropathy, Hematochezia	ORPHA:103910
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Listeriosis	Myocarditis, Acute kidney injury, Jaundice, Arteritis, Respiratory distress, Stroke, Miscarriage,...	ORPHA:533
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Hypospadias, Microtia, Narrow mouth, Micrognathia, Bifid uvula, Pos...	OMIM:164220
Mitochondrial Pyruvate Carrier Deficiency	Long philtrum, Organic aciduria, Thin upper lip vermilion, Respiratory distress	OMIM:614741
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Optic disc coloboma, Patent ductus art...	OMIM:241310
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me...	ORPHA:85198
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Dyspnea, Pulmonary aterial intimal fibrosis, Right ventricular...	OMIM:178600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Everted lower lip vermilion, Umbilical hernia, Broad ribs, Hip dislocation, Cleft ...	OMIM:301066
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Oral ulcer, Abnormal glomerular mesangium morpholo...	ORPHA:567544
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Generalized abnormality of skin, Respiratory distress, Esophageal varix, Failure to thrive, Skele...	ORPHA:367
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Proteus-Like Syndrome	Bronchogenic cyst, Thymus hyperplasia, Venous insufficiency, Hydrocephalus, Retinal detachment, M...	ORPHA:2969
Poikiloderma With Neutropenia	Retrognathia, Recurrent otitis media, Palmoplantar keratoderma, Recurrent bronchopulmonary infect...	OMIM:604173
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Chand Syndrome	Hydroureter, Atelectasis, Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hyme...	ORPHA:1401
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Premature coronary artery atherosclero...	ORPHA:650
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea, Small for gestational age	ORPHA:621
Monosomy 22	Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated...	ORPHA:96123
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Hearing impairment...	OMIM:620024
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Small for gestational age, Exaggerated cupid's bow, High palate, Broad thumb, Short pa...	OMIM:614501
Sclerosteosis 1	Optic atrophy, Sclerotic vertebral endplates, Irregular menstruation, Tooth malposition, Broad cl...	OMIM:269500
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the...	OMIM:611134
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Death in childhood, Ebstein anomaly of the tricuspid valve, Death in infancy	OMIM:619492
Cleft Velum	Recurrent otitis media, Cleft soft palate, Aspiration pneumonia, Hypoplasia of the maxilla, Condu...	ORPHA:99772
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus...	ORPHA:2237
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Long philtrum, Thin vermilion border, Platyspondyly, Wide distal femoral metaphys...	OMIM:614856
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Premature ovarian insufficiency, Hypospadias, Hypodontia, Sensorineural hearing ...	OMIM:176690
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Femoral bowing, Short ribs, Short long...	OMIM:615503
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Respiratory distress, Hypertrophic cardiomyopathy, Hearing impairment, Failure ...	ORPHA:308552
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Spina bifida occulta, Microtia, Vesicoureteral reflux, Scolios...	OMIM:617466
Tracheobronchopathia Osteochondroplastica	Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre...	ORPHA:3348
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Re...	OMIM:620278
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Nocturnal hypoventilation, Exercise-induced myoglobinuria, Pelvic girdle musc...	OMIM:607155
X-Linked Centronuclear Myopathy	Respiratory distress, Necklace skeletal muscle fibers, High palate, Type 1 fibers relatively smal...	ORPHA:596
Cutis Laxa, Autosomal Recessive, Type Iia	Excessive wrinkled skin, Wide anterior fontanel, Scoliosis, High palate, Low-set ears, Narrow mou...	OMIM:219200
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Decreased glomerular filtration rate, Sensorineural hearing impairment, Nephrotic sy...	ORPHA:488627
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Vascular dilatation, Ectopic kidney, Hydrocephalus, Forearm undergrowth, Re...	OMIM:602200
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Bacterial Toxic-Shock Syndrome	Myocarditis, Respiratory distress, Myositis, Recurrent urinary tract infections, Abnormality of t...	ORPHA:36234
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Anterior uveitis, Li...	ORPHA:85438
Sympathetic Ophthalmia	Erythema, Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Depig...	ORPHA:79098
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,...	OMIM:602196
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Chronic diarrhea, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy	OMIM:557000
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Vom...	ORPHA:2070
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Adrenal pheochromocytoma, Elevated urinary epinephrine level, El...	ORPHA:276621
Mitochondrial Trifunctional Protein Deficiency 2	Recurrent myoglobinuria, Myoglobinuria, Death in infancy, Neonatal death, Cerebral hemorrhage, Le...	OMIM:620300
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal diaphysis morphology, Penile hypospadias, Narrow chest, Slender long bone, Clubbing of f...	ORPHA:73230
Fanconi Anemia, Complementation Group P	Hypoplasia of the radius, Pelvic kidney, Hearing impairment, Micrognathia, Absent thumb, Short th...	OMIM:613951
Orofaciodigital Syndrome Xvi	Retrognathia, Low-set ears, Postaxial hand polydactyly, Retinopathy, Apnea, Hamartoma of tongue, ...	OMIM:617563
Momo Syndrome	Large for gestational age, Obesity, Thick lower lip vermilion, Delayed eruption of teeth, Femoral...	ORPHA:2563
Avian Influenza	Ground-glass opacification, Acute kidney injury, Pneumothorax, Myelitis, Respiratory distress, Mi...	ORPHA:454836
Folinic Acid-Responsive Seizures	Optic atrophy, Sensorineural hearing impairment, Apnea, Respiratory distress	ORPHA:79097
Unilateral Polymicrogyria	Stroke, Abnormal heart morphology, Apnea, Giant somatosensory evoked potentials, Cyanosis, Infant...	ORPHA:268943
Branchioskeletogenital Syndrome	Mixed hearing impairment, Upper limb peromelia, Pectus excavatum, Ureteral stenosis, Bifid uvula,...	ORPHA:1299
Monosomy 9P	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:261112
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Ambiguous genitalia, Finger syndactyly, Non-midline cleft of the upper lip, ...	ORPHA:1300
Hengel-Maroofian-Schols Syndrome	Widely spaced teeth, Short philtrum, Tooth malposition, Foot joint contracture, Everted lower lip...	OMIM:619641
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Death in childhood, Respiratory distress, Failure to thrive, Small scrotum, Crypto...	OMIM:615597
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Cardiomyopathy, Rhabdomyolysis, Oliguria, Cyanosis	ORPHA:159
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Patent ductus arteriosus	OMIM:619351
Campomelia, Cumming Type	Prematurely aged appearance, Abnormal intestine morphology, Pancreatic cysts, Bowing of the long ...	ORPHA:1318
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Aqueductal stenosis, Tibial bowing, Bowing of the long bones, Abnorma...	ORPHA:3035
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Ectopic kidney, Small earlobe, Dental crowding, Pectus carinatum, Everted lower l...	ORPHA:3063
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Gaucher Disease Type 2	Abnormal pattern of respiration, Recurrent respiratory infections, Flexion contracture, Respirato...	ORPHA:77260
Mucopolysaccharidosis, Type Iiia	Scoliosis, Asymmetric septal hypertrophy, Hearing impairment, Umbilical hernia, Ovoid thoracolumb...	OMIM:252900
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Narrow chest, Vertebral compression fracture, Small for gestational age, Angulated hu...	OMIM:616229
Idiopathic Pulmonary Fibrosis	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pa...	ORPHA:2032
Cocaine Intoxication	Pneumothorax, Acute kidney injury, Ischemic stroke, Pulmonary edema, Hematuria, Mydriasis, Hyperv...	ORPHA:90068
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Mesomelia-Synostoses Syndrome	Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar deviation of the ...	OMIM:600383
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Respiratory distress, Ragged-red muscle fibers, High palate, I...	ORPHA:254864
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Darwin tubercle of helix, Scapular winging, Unilateral cleft palate, Pectus...	OMIM:619122
Alpha-Heavy Chain Disease	Abnormal small intestine morphology	ORPHA:100025
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Trisomy 9P	Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Dental...	ORPHA:236
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Everted lower lip ve...	OMIM:601358
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Cachexia, Tracheoesophageal fistula, Abnormal rib morpholo...	ORPHA:93941
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Diabetes insipidus, Sensorineural hearing impairment, Abnormal autono...	OMIM:598500
Microlissencephaly-Micromelia Syndrome	Bilateral single transverse palmar creases, Abnormal circulating calcium-phosphate regulating hor...	ORPHA:50810
Necrotizing Enterocolitis	Apnea, Abnormal heart morphology, Small for gestational age, Cyanosis	ORPHA:391673
Renal Hypoplasia, Bilateral	Astigmatism, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuri...	ORPHA:97362
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Premature occlusive vascular stenosis, Angioid streaks of the fundus, Arteri...	OMIM:177850
Immunodeficiency 49	Short philtrum, Pulmonary artery stenosis, Micrognathia, Natal tooth, Posteriorly rotated ears, U...	OMIM:617237
Penile Agenesis	Tracheoesophageal fistula, Cystic renal dysplasia, Abnormality of the bladder, Cryptorchidism, Po...	ORPHA:49
Tolchin-Le Caignec Syndrome	Clinodactyly of the 5th finger, Cardiac rhabdomyoma, Sensorineural hearing impairment, Abnormal v...	OMIM:618971
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Hemolytic-uremic syndrome, Short philtrum, Short long bone, Downturned corners of m...	OMIM:301110
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Brachycephaly, Trichomegaly, And Developmental Delay	Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Single transverse palmar c...	OMIM:617412
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Duplication Of The Pituitary Gland	Abnormal odontoid process morphology, Supernumerary tooth, Retrognathia, Congenital stationary ni...	ORPHA:314621
Immunodeficiency 87 And Autoimmunity	Necrotizing enterocolitis, Cleft palate, Secretory diarrhea, Atrophic gastritis, Perianal dermati...	OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Proteinuria	OMIM:620010
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Congenital Laryngeal Web	Respiratory distress, Abnormal cardiac septum morphology	ORPHA:2374
White-Kernohan Syndrome	Retrognathia, Recurrent otitis media, Hydroureter, Horseshoe kidney, Rectovaginal fistula, Low-se...	OMIM:619426
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Emphysema, Arachnodactyly, Abnormal heart morphology, Hip disloc...	OMIM:614100
Kindler Epidermolysis Bullosa	Cheilitis, Corneal opacity, Abnormality of the anus, Short 4th metacarpal, Phimosis, Carious teet...	ORPHA:2908
Acromelic Frontonasal Dysostosis	Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Patellar hypoplasia, Talipes e...	OMIM:603671
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Radial deviation of finger, Proximal placement of thumb, Sensori...	OMIM:613406
You-Hoover-Fong Syndrome	Kyphoscoliosis, Pectus excavatum, Double aortic arch, Hearing impairment, Coarctation of aorta, C...	OMIM:616954
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Galactosemia I	Premature ovarian insufficiency, Galactosuria, Hypergonadotropic hypogonadism, Increased level of...	OMIM:230400
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Treacher Collins Syndrome 1	Cleft soft palate, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hea...	OMIM:154500
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Abnormal intestine morphology, Esophageal carcinoma, Enterocolitis, Villous atrophy	ORPHA:391487
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Uplifted earlobe, Bifid uvula, Wide mouth, Do...	OMIM:618779
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Small for gestational age, Ventricular septal defec...	OMIM:227645
Crimean-Congo Hemorrhagic Fever	Spontaneous hematomas, Vertigo, Inappropriate antidiuretic hormone secretion, Diffuse alveolar he...	ORPHA:99827
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Kyphoscoliosis, Asymmetry of the thorax, Narrow chest, Vertebral com...	OMIM:618644
Galloway-Mowat Syndrome 4	Congenital nephrotic syndrome, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse me...	OMIM:617730
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Severe Congenital Nemaline Myopathy	Abnormality of the diaphragm, Hypospadias, Thin ribs, Facial diplegia, Low-set ears, Facial palsy...	ORPHA:171430
Nocardiosis	Pneumothorax, Abnormality of the adrenal glands, Emphysema, Pleuritis, Respiratory distress, Abno...	ORPHA:31204
Myotonic Dystrophy 1	Cholelithiasis, Respiratory distress, Facial diplegia, Hypogonadism, Cataract, Testicular atrophy	OMIM:160900
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Diastema, Hypospadias	OMIM:179250
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morpholog...	ORPHA:2234
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, High palate, Low-set ears, Corneal scarring, Retinal hemorrhage, Hand clenching, Apnea,...	OMIM:614653
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Long philtrum, Small placenta...	OMIM:208150
Desbuquois Dysplasia 2	Dental crowding, Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectu...	OMIM:615777
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Intestinal pseudo-obstruction, Decreased body weight, Pulmonic stenosis,...	OMIM:616201
Gitelman Syndrome	Delayed puberty, Urinary incontinence, Neoplasm of the pancreas, Renal potassium wasting, Vertigo...	ORPHA:358
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Cardiomyopathy, Infertility, Hypothyroidism, Diabetes mel...	ORPHA:465508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Branchiootorenal Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal...	OMIM:113650
Alternating Hemiplegia Of Childhood	Mydriasis, Facial hypotonia, Respiratory distress, Exaggerated cupid's bow, Cardiomyopathy, Abnor...	ORPHA:2131
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Respiratory distress, Hallux valgus, Pectus excavatum...	OMIM:617180
Myh9-Related Disease	Renal insufficiency, Sensorineural hearing impairment, Menorrhagia, Nephritis, Presenile cataract...	ORPHA:182050
Dermatosparaxis Ehlers-Danlos Syndrome	Retrognathia, Excessive wrinkled skin, Hiatus hernia, Scoliosis, Esophagitis, Coxa vara, Microgna...	ORPHA:1901
Fraser Syndrome	Renal hypoplasia/aplasia, Abnormal vagina morphology, Hypoplasia of penis, Dental crowding, Abnor...	ORPHA:2052
15q26 overgrowth syndrome	Sensorineural hearing impairment, Abnormal finger morphology, Abnormal pinna morphology, Arachnod...	DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 42	Limited elbow extension, Short philtrum, Limb hypertonia, Sensorineural hearing impairment, Neuro...	OMIM:616973
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Increased muscle glycogen content, Exercise-induced myoglobinuria, Glycogen ...	ORPHA:368
Geleophysic Dysplasia 2	Short foot, Tricuspid stenosis, Aortic valve stenosis, Short palm, Mitral stenosis, Ovoid vertebr...	OMIM:614185
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Hyp...	ORPHA:747
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle...	OMIM:609166
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Sensorineural hearing impairment, Nephropathy, Dyspnea, Hearing impairment...	OMIM:308940
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Acute rhabdomyolysis, Premature pubarche, Sensorineural hearing impairment, Myoglo...	OMIM:616878
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Congenital hypoparathyroidism, Thin ribs, Thin long bon...	ORPHA:93324
Aspartylglucosaminuria	Chronic otitis media, Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beakin...	ORPHA:93
Cystic Echinococcosis	Abnormal pulmonary thoracic imaging finding, Abnormality of the diaphragm, Jaundice, Increased ci...	ORPHA:400
Surfactant Metabolism Dysfunction, Pulmonary, 2	Ground-glass opacification, Tachypnea, Respiratory distress, Intraalveolar phospholipid accumulat...	OMIM:610913
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia, Hearing impairment, Protruding ear, Supernumerary nipple, Irregular menstruation	ORPHA:1809
Fanconi Anemia, Complementation Group A	Male infertility, Ectopic kidney, Duplicated collecting system, Small for gestational age, Abnorm...	OMIM:227650
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal peau d'orange, Coronary artery atherosclerosis, Angioid str...	OMIM:264800
Alg11-Cdg	Retrognathia, Limb hypertonia, Scoliosis, Hearing impairment, Failure to thrive, Long philtrum	ORPHA:280071
Loeffler Endocarditis	Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the...	ORPHA:75566
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia, Mixed hearing impairment, Respiratory distress, Sensorineural he...	OMIM:606164
Branchiootic Syndrome 1	Retrognathia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears,...	OMIM:602588
Osteogenesis Imperfecta, Type Ix	Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Dentinogenesis imperf...	OMIM:259440
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Gastroparesis, Intestinal...	OMIM:155310
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r...	OMIM:200610
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De...	OMIM:617405
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Sandal gap, Short hallux, Bilateral conductive hearing impairment, Agenesis of...	OMIM:216300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Wide anterior fontanel, Increased circulating IgE level, Hypopl...	OMIM:617241
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypospadias, Alobar holoprosencephaly, Diabetes insipidus, Hypoplasi...	OMIM:615465
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic...	ORPHA:1506
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Finger syndactyly, Abnormally ossified ve...	ORPHA:1512
Fanconi Renotubular Syndrome 5	Genu valgum, Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria...	OMIM:618913
Rhizomelic Dysplasia, Patterson-Lowry Type	Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Mandibular prognathia, Hyperlordo...	ORPHA:2831
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Sensorineural hearing impair...	OMIM:211530
Spastic Paraplegia 23, Autosomal Recessive	Retrognathia, Premature graying of body hair, Scoliosis, Scapular winging, Micrognathia, Lower li...	OMIM:270750
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Cubitus valgus, Superior pectus carinatum, Scoliosis, Low-s...	OMIM:601321
Mpdu1-Cdg	Optic atrophy, Thin vermilion border, Decreased response to growth hormone stimulation test, Abse...	ORPHA:79323
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia, Clubbing, Cor pulmonale	OMIM:247610
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Abnormal thorax mor...	OMIM:201910
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Limb hypertonia, High palate, Pectus excavatum, Failure to thrive, Cleft palate, Hydronephrosis, ...	ORPHA:488613
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Bent Bone Dysplasia Syndrome 1	Clitoral hypertrophy, Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Gingival overg...	OMIM:614592
Singleton-Merten Syndrome 1	Aortic arch calcification, Eruption failure, Short dental root, Expanded phalanges with widened m...	OMIM:182250
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Diarrhea, ...	OMIM:619381
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Respiratory distress, High palate, Failure to thrive, Stroke-like episode, Skeletal ...	OMIM:619272
Stt3B-Cdg	Optic atrophy, Respiratory distress, Failure to thrive, Small scrotum, Cryptorchidism, Micropenis	ORPHA:370924
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Reni Syndrome	Sensorineural hearing impairment, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:617575
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Respiratory distress, Lower limb amyotrophy, Calf muscle...	OMIM:620375
Limb-Mammary Syndrome	Oligodactyly, Aplasia of the uterus, Bifid uvula, Syndactyly, 3-4 finger cutaneous syndactyly, Cl...	ORPHA:69085
Fanconi Anemia, Complementation Group E	Ectopic kidney, Duplicated collecting system, Small for gestational age, Hypergonadotropic hypogo...	OMIM:600901
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Recurrent urinary tract infections, Neurogenic bladder,...	OMIM:619218
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Meckel Syndrome 12	Rocker bottom foot, Bilateral renal agenesis, Low-set ears, Ureteral hypoplasia, Renal hypoplasia...	OMIM:616258
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Cryoglobulinemic Vasculitis	Glomerulopathy, Purpura, Hematuria, Petechiae, Vasculitis, Cutis marmorata, Proteinuria, Renal in...	ORPHA:91138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Necrotizing enterocolitis, Hypertrophic ca...	OMIM:201475
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Sensorineural hearing impairment, Abnormality of the uppe...	ORPHA:2838
Gracile Bone Dysplasia	Aniridia, Slender long bone, Flared metaphysis, Hydrocephalus, Thin ribs, Ankyloglossia, Death in...	OMIM:602361
High Altitude Pulmonary Edema	Pulmonary edema, Pulmonary opacity, Vertigo, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis	ORPHA:330012
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Furrowed tongue, Erythematous oral m...	OMIM:158310
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Retrognathia, Cryptorchidism, Excessive wrinkling of palmar skin	OMIM:210700
Dent Disease 1	Proximal tubulopathy, Tibial bowing, Femoral bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300009
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Ventricular hypertrophy, Cardiomyopathy, Red-brown urine, Rhabdomyolysis, Myopathy	ORPHA:228305
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Knee flexion contracture, Respiratory distress, Sensorineura...	OMIM:618733
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Death in infancy, Umbilical hernia, Hip d...	OMIM:308205
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Partial atrioventricular canal defect, Apnea, Open mouth, Cyanosis	OMIM:620423
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of the 5th finger, Am...	OMIM:601163
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Angioid streaks of the fundus, Hypercalciuria, Sensorineural hearing impairm...	OMIM:239000
Hemochromatosis, Type 1	Azoospermia, Cardiomyopathy, Pleural effusion, Impotence, Diabetes mellitus, Cardiomegaly, Amenor...	OMIM:235200
Cushing Disease	Amenorrhea, Increased body weight, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Abn...	ORPHA:96253
Autosomal Recessive Spastic Paraplegia Type 20	Abnormal thumb morphology, Abnormality of the hand, Genu valgum, Increased overbite, Distal amyot...	ORPHA:101000
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:600995
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Neonatal death, Finger aplasia, Endocardial fibroelastosis	OMIM:276822
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduce...	OMIM:603278
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplastic female external genitalia, Hypospadias, Multiple pterygia, Pterygium, Abnormal pinna ...	OMIM:177980
Familial Mediterranean Fever	Intestinal obstruction, Pleuritis, Vasculitis, Nephrotic syndrome, Pericarditis, Nephrocalcinosis...	ORPHA:342
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Failure to thrive, Rhabdomyolysis, Small for gestational age, Dilated cardiomyopat...	OMIM:609015
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Myo...	ORPHA:228308
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hypoplasia, Underd...	OMIM:610829
Iga Nephropathy, Susceptibility To, 1	Purpura, Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kid...	OMIM:161950
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hematuria, Increased circulating ant...	ORPHA:77261
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti...	OMIM:615573
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Secretory adre...	ORPHA:403
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Cutis Laxa, Autosomal Dominant 1	Emphysema, Prematurely aged appearance, Dyspnea, Bronchiectasis, Uterine prolapse, Long philtrum,...	OMIM:123700
Cardiac Valvular Dysplasia, X-Linked	Short chordae tendineae of the tricuspid valve, Thick vermilion border, Mitral valve prolapse, Bi...	OMIM:314400
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Orofaciodigital Syndrome X	Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen...	OMIM:165590
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Breast hypoplasia, Thick lower lip vermilion, Emphysema, Slender long bone...	OMIM:613804
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d...	OMIM:617609
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, 2-3 toe cutaneous syndactyly, Low-set ears, High palate, Narrow mouth, Long fingers...	OMIM:301091
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening	OMIM:613857
Adult-Onset Still Disease	Myocarditis, Pleuritis, Pericarditis, Bone marrow hypocellularity, Proteinuria, Weight loss, Inte...	ORPHA:829
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Astigmatism, Sensorineural hearing impairment, Pelvic kidney, Dilatation of renal calices, Single...	ORPHA:466943
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Oligozoospermia, Clitoral hypoplasia	OMIM:614813
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Large placenta, Diastasis recti, Coat hanger sign of ribs, Abnormal he...	ORPHA:254534
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperp...	ORPHA:404
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Intestinal malrotation, Acholic stools, Jejunal atresia, Anteriorl...	OMIM:615710
Majeed Syndrome	Glomerulopathy, Cachexia, Microscopic hematuria, Failure to thrive, Proteinuria, Flexion contract...	ORPHA:77297
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
Cryofibrinogenemia, Familial Primary	Transient nephrotic syndrome, Hematuria, Acrocyanosis	OMIM:123540
Martin-Probst Syndrome	Thick lower lip vermilion, Renal insufficiency, Sensorineural hearing impairment, Hypoplastic nip...	OMIM:300519
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Thin ribs, Narrow mouth, Decreased body weight, F...	OMIM:614833
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Kyphosis, Stage 5 chronic kidney disease, Hip dislocation, Scoliosis, Corneal sca...	OMIM:309000
Hereditary Pulmonary Alveolar Proteinosis	Foam cells, Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Fa...	ORPHA:264675
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Dental crowding, Thin ribs, Micrognathia, Ovoid vertebral bodies...	OMIM:620601
Preeclampsia	Abnormality of the kidney, Acute kidney injury, Pulmonary edema, Type I diabetes mellitus, Protei...	ORPHA:275555
Cryptogenic Organizing Pneumonia	Ground-glass opacification, Pneumothorax, Respiratory distress, Dyspnea, Parenchymal consolidatio...	ORPHA:1302
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Optic atrophy, Hyperventilation, Multiple glomerular cysts, Rag...	ORPHA:255210
Hec Syndrome	Cardiomyopathy, Communicating hydrocephalus, Developmental cataract, Abnormal retinal vascular mo...	ORPHA:2119
Lysinuric Protein Intolerance	Abnormal renal tubule morphology, Steatorrhea, Argininuria, Oroticaciduria, Increased circulating...	ORPHA:470
Spinal muscular atrophy, type I, with congenital bone fractures	Rocker bottom foot, Acute infantile spinal muscular atrophy, Respiratory distress, High palate, P...	OMIM:271225
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Renal tubular acidosis, Myoglobinuria, Esophageal varix, Cardiomyopathy, Increas...	ORPHA:264580
Meckel Syndrome, Type 7	Situs inversus totalis, Multiple glomerular cysts, Pancreatic cysts, Bile duct proliferation, Aor...	OMIM:267010
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Protruding tongue, Hearing impairment, Hand clenching, Apnea, Cyanosis	OMIM:619580
Developmental And Epileptic Encephalopathy 89	Clitoral hypertrophy, Death in childhood, Narrow chest, Scoliosis, Hypoplastic labia minora, Low-...	OMIM:619124
Familial Dysautonomia	Optic atrophy, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Orthostatic hypotensio...	ORPHA:1764
Bangstad Syndrome	Retrognathia, Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant...	OMIM:210740
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Mixed hearing impairment, Acetabular dysplasia, Oligodontia, Mandibular prognathia...	OMIM:201180
Tetanus	Respiratory distress, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, ...	ORPHA:3299
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Bilateral sensorineural hearing impairment, Prolonged neonatal jaundice, Failure to ...	OMIM:619418
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Abnormal for...	ORPHA:3109
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Sensorineural hearing impairment, Bilateral sensorineural hear...	OMIM:620536
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Respiratory distress, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Brain Malformations With Or Without Urinary Tract Defects	Syringomyelia, Vesicoureteral reflux, Narrow mouth, Low-set ears, Renal hypoplasia, Failure to th...	OMIM:613735
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormal long bone morphology, Renal phosphate wasting, Proxima...	ORPHA:411634
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta	OMIM:226100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Bifid uvula,...	OMIM:130070
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Low-set, posteriorly rotated ears, Esophageal atresia, Finger...	ORPHA:59315
Alkaptonuria	Coronary artery calcification, Atherosclerosis, Aortic aneurysm	ORPHA:56
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Fasting hyperinsulinemia, Myoglobinuria, Hypertrophic cardiomyopathy, Fail...	ORPHA:71212
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Hearing impairment, Nephrotic syndrome, Thickened glomerular basement...	OMIM:203780
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Recurrent otitis media, Lumbar scoliosis, Bifid uvula, Submucous cleft hard ...	OMIM:601492
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Native American Myopathy	Abnormality of skeletal muscle fiber size, Progressive congenital scoliosis, High palate, Camptod...	ORPHA:168572
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Fibular bowing, Chronic kidney disease, Renal phosphate wasting...	OMIM:300554
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Renal cyst, Failure to thrive, Apnea, Multiple renal cysts	OMIM:614883
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Clinodactyly of the 5th fing...	ORPHA:2769
Succinic Acidemia	Respiratory distress	OMIM:600335
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu...	OMIM:602111
Diffuse Alveolar Hemorrhage	Ground-glass opacification, Hematuria, Dyspnea, Hypoxemia, Proteinuria, Weight loss, Pulmonary fi...	ORPHA:90060
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase...	OMIM:619178
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Axial muscle stiffness, Respiratory distress	ORPHA:240085
Lymphatic Malformation 6	Intestinal lymphangiectasia, Chylothorax, Abnormal pinna morphology, Scoliosis, Pleural effusion,...	OMIM:616843
Meier-Gorlin Syndrome 6	Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Sandal gap, St...	OMIM:616835
Blau Syndrome	Abnormal optic nerve morphology, Retinopathy, Pericarditis, Stage 5 chronic kidney disease, Abnor...	ORPHA:90340
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Stroke, Respiratory distress	ORPHA:927
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Congenital hypothyroidism, Arachnodactyly, Proteinuria, Diffuse...	OMIM:619609
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Holoprosencephaly 1	Tessier cleft, Cyclopia, Alobar holoprosencephaly, Diabetes insipidus, Adrenal hypoplasia, Median...	OMIM:236100
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Platyspondyly, Barrel-shaped chest, Vertebral compression fracture, Retinal calci...	OMIM:259770
Desmoid Tumor	Intestinal obstruction, Intestinal polyposis, Abnormality of the upper urinary tract, Hydronephro...	ORPHA:873
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Arima Syndrome	Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointerstitial fibro...	OMIM:243910
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Nephropathy	OMIM:105200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia ...	OMIM:300863
Nijmegen Breakage Syndrome	Retrognathia, Rhabdomyosarcoma, Hearing abnormality, Anal stenosis, Cutaneous photosensitivity, N...	ORPHA:647
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Vertebral compression fracture, Slender long bone, Femoral retroversion, Wid...	OMIM:610915
Parenteral Nutrition-Associated Cholestasis	Villous atrophy	ORPHA:567983
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Vascular dilatation, Hydrocephalus, Postaxial polydactyly, Hyperechog...	OMIM:219730
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Micrognathia, Cleft palate, Anotia, Conotruncal defect	OMIM:243440
Congenital Enterovirus Infection	Myocarditis, Respiratory distress, Pleural effusion, Cardiomyopathy, Pericardial effusion	ORPHA:292
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal radial ...	OMIM:617784
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Arachnodactyly, Scoliosis, Slender build	OMIM:617600
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Tapered finger, Low-set ears, Renal cyst, Scapular winging, Carious tee...	OMIM:615560
Cardiomyopathy, Dilated, 1Y	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri...	OMIM:611878
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ...	ORPHA:198
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Astigmatism, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing...	ORPHA:50815
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Breath-Holding Spells	Cyanosis	OMIM:607578
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Microtia, Aplas...	OMIM:614083
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender ...	OMIM:244460
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi...	ORPHA:189427
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Failure to thrive, Type I diabetes mellitus, Proteinuria	OMIM:619858
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Retrognathia, Bowed humerus, Short clavicles, Elbow flexion cont...	OMIM:618022
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Diarrhea, Glossitis, Hamartomatous polyposis, Vomiting, Hematochezia,...	OMIM:175500
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis	ORPHA:36258
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber dia...	ORPHA:119
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e...	ORPHA:36238
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Macular dystrophy, Abnormal retinal morphology on macular OCT, ...	ORPHA:251004
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Umbilical he...	OMIM:616028
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Ectopic kidney, Aplasia of th...	OMIM:617247
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Failure to thrive, Scoliosis, Aortopulmonary collateral arteries	ORPHA:293181
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyp...	OMIM:219080
Mpi-Cdg	Diarrhea, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting	ORPHA:79319
Ileal Neuroendocrine Tumor	Dermatological manifestations of systemic disorders, Tricuspid stenosis, Small intestine carcinoi...	ORPHA:100078
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Lower-limb joint contrac...	ORPHA:99885
Netherton Syndrome	Emphysema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level,...	ORPHA:634
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hydrocephalus, Myoglobinuria, Polycystic kidney dysplasia, Red...	ORPHA:157
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Sensorineural hearing impairment, Everted lower lip vermilion, Abnormal autonomi...	ORPHA:293987
Enlarged Parietal Foramina	Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Cle...	ORPHA:60015
X-Linked Hypophosphatemia	Sensorineural hearing impairment, Flared iliac wing, Abnormal epiphysis morphology, Genu varum, E...	ORPHA:89936
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology, Flexion contracture of finger, Sacral dimple, Scoli...	ORPHA:3206
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Calf muscle pseudohypertrophy, Cardiomyopathy, Proteinuria, Insulin-resistant d...	ORPHA:79086
Acromesomelic Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi...	OMIM:602875
Frontofacionasal Dysplasia	Orofacial cleft, Hypoplasia of the frontal bone, Microcornea, Cleft upper lip, Bifid uvula, Malar...	OMIM:229400
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Restrictive cardiomyopathy, Death in infancy	OMIM:619433
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Amenorrhea, Pheochromocytoma, Increased body weight, Adrenal hyperplasia...	ORPHA:99889
Lymphatic Malformation 7	Pulmonary edema, Respiratory distress, Chylothorax, Pleural effusion, Pericardial effusion, Atria...	OMIM:617300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Dilatation of celiac artery, Dental crowding, Scoliosis, High palate, ...	OMIM:619329
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Congenital Disorder Of Glycosylation, Type If	Optic atrophy, Thin vermilion border, Renal cortical cysts, Wide anterior fontanel, Death in infa...	OMIM:609180
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Genu valgum, Cleft soft palate, Retinal dystrophy, Hypoplasia of the ovary, Hydroc...	OMIM:619321
Oculopharyngodistal Myopathy 1	Respiratory distress, Sensorineural hearing impairment, Distal amyotrophy, Rimmed vacuoles, High ...	OMIM:164310
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive, Dilated cardiomyopathy, Methylmalonic aciduria, Ketonuria	OMIM:251110
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Narrow chest, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, ...	ORPHA:93317
Pierson Syndrome	Posterior lenticonus, Death in childhood, Hypoplasia of the ciliary body, Retinal hemorrhage, Ret...	OMIM:609049
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Urinary incontinence, Type 1 ...	ORPHA:169189
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Long ear, Hypospadias, Ventricular septal defect, Interrupted in...	OMIM:618846
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Clubbing, Hypoxemia, Enlarged lacrimal glands, Chorioretini...	OMIM:181000
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Corneal erosion, Sensorineural hearing impairment, Nephrotic syndrome, Micros...	OMIM:301050
Episodic Ataxia Type 1	Kyphoscoliosis, Respiratory distress, Vertigo, Calf muscle hypertrophy, Scoliosis, Hand clenching	ORPHA:37612
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Respiratory distress, Abnormal pinna morphology, Abnormality of primary teeth, ...	ORPHA:438216
Collagenoma, Familial Cutaneous	Right ventricular cardiomyopathy, Primary testicular failure, Sensorineural hearing impairment, V...	OMIM:115250
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Anaplastic Thyroid Carcinoma	Respiratory distress, Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Dyspnea,...	ORPHA:142
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Retinal exudate, Stroke, Retinal hemorrhage, Vasculitis in the skin, Punctate vasculit...	OMIM:192315
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Retro...	ORPHA:49041
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Renal steatosis, Apnea, Cyanosis, Ketonuria	OMIM:261680
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy	OMIM:231530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, Muscular dystrophy, 11 pairs of ribs, Multicystic...	OMIM:615287
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Scoliosis, Synostosis of car...	ORPHA:2307
Agammaglobulinemia, X-Linked	Prostatitis, Recurrent otitis media, Decreased circulating IgE, Recurrent lower respiratory tract...	OMIM:300755
Holocarboxylase Synthetase Deficiency	Respiratory distress, Organic aciduria, Keratoconjunctivitis, Weight loss, Tachypnea	ORPHA:79242
Waardenburg Syndrome, Type 2E	Premature graying of hair, Vascular dilatation, Sensorineural hearing impairment, Dilated vestibu...	OMIM:611584
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Male hypogonadism, Superior rib anomalies, Hypergonadotropic h...	OMIM:307500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Hypospadias, Narrow chest, Bowed humerus, Small pituitary gland, Short lingu...	OMIM:619479
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas, Polycystic kidney dysplasia, Pa...	OMIM:208540
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Hypothyroidism, Decreased ci...	OMIM:275100
Choanal Atresia	Polydactyly, Respiratory distress, Recurrent respiratory infections, Cyanosis, Chronic sinusitis	ORPHA:137914
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Fragile skin, Adrenal hyperplasia, Dorsocervical fat pad, Bruising suscept...	OMIM:615830
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Dilatation of celiac artery, ...	OMIM:187300
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Syringomyelia, Hearing abnormality, Thin metacarpal cortices, Vertebral compressi...	OMIM:616507
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Cole-Carpenter Syndrome 2	Hydrocephalus, Narrow iliac wing, Thin ribs, High palate, Pectus excavatum, Kyphosis, Dentinogene...	OMIM:616294
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathioninuria, Hydr...	OMIM:277400
Heme Oxygenase 1 Deficiency	Hematuria, Chemosis, Nephritis, Proteinuria, Diffuse alveolar hemorrhage	OMIM:614034
Acquired Methemoglobinemia	Respiratory distress, Vertigo, Dyspnea, Hypoxemia, Cyanosis	ORPHA:464453
Osteogenesis Imperfecta, Type Ii	Bell-shaped thorax, Crumpled long bones, Small for gestational age, Thin ribs, Tibial bowing, Abn...	OMIM:166210
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De...	OMIM:201750
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Torticollis, Respiratory distress, Abnormal mandible ...	ORPHA:93958
Sepsis In Premature Infants	Purpura, Jaundice, Cyanosis, Petechiae, Decreased body weight, Dyspnea, Nasal flaring, Enterocoli...	ORPHA:90051
Mandibuloacral Dysplasia	Hyperinsulinemia, Abnormal tongue morphology, Short clavicles, Dental crowding, Osteolytic defect...	ORPHA:2457
Oeis Complex	Ambiguous genitalia, male, Myelomeningocele, Intestinal malrotation, Absence of the sacrum, Talip...	OMIM:258040
Biotinidase Deficiency	Optic atrophy, Respiratory distress, Sensorineural hearing impairment, Organic aciduria, Optic ne...	ORPHA:79241
Pachyonychia Congenita	Advanced eruption of teeth, Palmoplantar keratoderma, Ear pain, Respiratory distress, Angular che...	ORPHA:2309
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Sacral dimple, Short philtrum, Hydrocephalus, Microtia, Mandibular prognat...	OMIM:613603
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur	OMIM:600121
Ethylene Glycol Poisoning	Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Gastritis, Renal tubular dysfuncti...	ORPHA:31826
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Short 4th metacarpal, High palate, Short clavicles, Microretrognathia	OMIM:606220
Severe Acute Respiratory Syndrome	Acute kidney injury, Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Diabet...	ORPHA:140896
Japanese Encephalitis	Pulmonary edema, Distal lower limb muscle weakness, Hyperintensity of MRI T2 signal of the spinal...	ORPHA:79139
Encephalopathy, Ethylmalonic	Petechiae, Ethylmalonic aciduria, Death in infancy, Failure to thrive, Abnormal retinal vascular ...	OMIM:602473
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Orthostatic hypotension, Recurrent urinary tract infections, Neurogenic bladder, Ves...	OMIM:191800
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Facial diplegia, Impotence, Abnormality of the tongue muscle, Decr...	ORPHA:273
Coenzyme Q10 Deficiency, Primary, 6	Sensorineural hearing impairment, Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse me...	OMIM:614650
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ...	OMIM:619598
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Delayed eruption of permanent teeth, Nephrotic syndrome, Protei...	ORPHA:839
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Clubbing, Dyspnea, Hypoxemia, Pneumonia, R...	OMIM:610910
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Wide anterior fon...	ORPHA:95715
Grange Syndrome	Renal artery stenosis, Decreased body weight, Coronary artery stenosis, Renovascular hypertension...	OMIM:602531
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Cachexia, Abnormal intestine morphology, Type I diabetes mel...	ORPHA:37042
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Sensorineural hearing impairment, Esophagitis, Hydronephrosis, Diab...	ORPHA:541423
Rodrigues Blindness	Tooth malposition, Microcornea, Ectodermal dysplasia, Nasal flaring, Sclerocornea, Protruding ear	OMIM:268320
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Fetal megacystis, Microcolon, Abnormal heart morphology, Hydronephrosis, Neonatal death	OMIM:619362
Posterior Urethral Valve	Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infection...	ORPHA:93110
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Tubulointerstitial fibrosis, Nephrocalcinosis, Stage 5 chronic ...	ORPHA:79259
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Hypoplasia of penis, Tooth malposition, Bifid uvula, Cleft palate, F...	ORPHA:2250
Nipah Virus Disease	Vertigo, Recurrent pharyngitis, Respiratory distress	ORPHA:99825
Muscular Dystrophy, Congenital, With Or Without Seizures	Hypoglycosylation of alpha-dystroglycan, Progressive hearing impairment, Type I diabetes mellitus...	OMIM:620166
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Sensorineural hearing impairment, Patent foramen ovale, Ventricular septal defect, Rectoperineal ...	OMIM:618748
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Idiopathic Neonatal Atrial Flutter	Large for gestational age, Tachypnea, Maternal diabetes, Respiratory distress	ORPHA:45452
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Respiratory distress, Promi...	ORPHA:2140
Monosomy 22Q13.3	Sacral dimple, Clinodactyly of the 5th finger, Dental crowding, Vesicoureteral reflux, Hearing im...	ORPHA:48652
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Hypospadias...	OMIM:313850
Lipodystrophy, Familial Partial, Type 7	Cutis marmorata, Type I diabetes mellitus, Lower limb muscle weakness, Lack of facial subcutaneou...	OMIM:606721
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Cdags Syndrome	Rectourethral fistula, Hypospadias, Rectovaginal fistula, Short clavicles, Sensorineural hearing ...	OMIM:603116
Waardenburg Syndrome, Type 1	Premature graying of hair, Orofacial cleft, Aplasia of the vagina, Mandibular prognathia, Heteroc...	OMIM:193500
Pycnodysostosis	Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Narrow iliac wing, Osteo...	OMIM:265800
Leptospirosis	Acute kidney injury, Jaundice, Respiratory distress, Optic neuritis, Chorioretinitis, Pleural eff...	ORPHA:509
Xylt1-Cdg	Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Cleft palate, Thick vermilion b...	ORPHA:370930
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Abnormality of the dentition, Bowing o...	OMIM:617952
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Anterior polar cataract, Sensorineural hearing impairment, Hearing impairment, Nephrot...	OMIM:104200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent corneal erosions, Orthostatic hypotension, Glomerular sclerosis, Corneal ulceration, Sc...	OMIM:223900
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio...	ORPHA:1435
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Frasier Syndrome	Ambiguous genitalia, male, Glomerulopathy, Renal insufficiency, Focal segmental glomerulosclerosi...	ORPHA:347
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery, Hearing abnormality, Aniridia	ORPHA:1065
Laryngotracheal Angioma	Apnea, Cyanosis, Intercostal retractions, Respiratory distress	ORPHA:137935
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Sensorineural hearing impairment, Narrow mouth, Hypothyroidism, Failure to th...	OMIM:619147
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Pseudopapillede...	OMIM:146255
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Premature ovaria...	ORPHA:3464
Laryngomalacia	Respiratory distress	OMIM:150280
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br...	OMIM:113300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Recurrent corneal erosions, Jaundice, Corneal ulceration, Respiratory distress, Autoamputation of...	OMIM:256810
Chiari Malformation Type Ii	Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Limb muscle we...	OMIM:207950
Bardet-Biedl Syndrome 12	Polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, O...	OMIM:615989
Lymphangiectasia, Intestinal	Stillbirth, Decreased circulating IgG level, Prominent floating ribs, Intestinal lymphangiectasia	OMIM:152800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Dermatomyositis	Inflammatory myopathy, Gastrointestinal stroma tumor, Pericarditis, Diffuse reticular or finely n...	ORPHA:221
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Congenital nephrotic syndrome, Pyloric stenosis, Hypothyroidism, Renal tubu...	OMIM:256300
Hypoadrenocorticism, Familial	Adrenal hypoplasia, Apnea, Cyanosis, Adrenal insufficiency	OMIM:240200
Pheochromocytoma	Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Developmental cat...	OMIM:171300
Insulin-Resistance Syndrome Type B	Increased body weight, Fasting hyperinsulinemia, Hyperinsulinemia, Increased serum testosterone l...	ORPHA:2298
Gaucher Disease, Type Ii	Bronchiolitis, Double aortic arch, Death in infancy, Failure to thrive, Apnea, Recurrent aspirati...	OMIM:230900
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Hypoxemia, Pneumonia, ...	ORPHA:178320
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Decreased glomerular fil...	ORPHA:91500
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, 3-Methylglutaconic aciduria, Myoglobinuria, Lower limb muscle weakness, Dyspnea, H...	OMIM:251900
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Ddost-Cdg	Primary hypothyroidism, Failure to thrive, Nephrotic range proteinuria	ORPHA:300536
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Developmental glaucoma, Sensorine...	OMIM:610199
Diphallia	Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma...	ORPHA:227
Chronic Pneumonitis Of Infancy	Ground-glass opacification, Intercostal retractions, Respiratory distress, Diffuse reticular or f...	ORPHA:91359
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Anterior tibial bowing, Dislocated ...	OMIM:605274
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Short clavicles, Dental crowding, Osteolytic defects of the distal ...	OMIM:248370
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Fused cervical vertebrae, Respiratory distress, Stomatitis, Flaring of rib cage, Pulmonary fibros...	OMIM:612852
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Wilson Disease	Sunflower cataract, Increased urinary copper concentration, Hypoparathyroidism, Decreased nerve c...	OMIM:277900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Sensorineural hearing impairment, Proteinuria, Renal insufficiency, Hyperparathyr...	ORPHA:2668
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Proteinuria, Hype...	ORPHA:263455
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Wide anterior fontanel, Hypertrophic cardiomyopathy, Hypothyroidism, Weight loss, Mi...	OMIM:613673
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Chalazion, Patent ductus arteriosus, Scoliosis, Slender finger, Hearing impairment, Long fingers,...	OMIM:613355
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Failure to thrive, Decreased response to growth hormone stimulation test, Lymphocytic interstitia...	OMIM:245590
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ...	OMIM:187760
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Umbilical hernia, Nephroc...	OMIM:300555
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Kagami-Ogata Syndrome	Kyphoscoliosis, Large for gestational age, Large placenta, Bell-shaped thorax, Microtia, Diastasi...	ORPHA:254519
Ethylmalonic Encephalopathy	Petechiae, Ethylmalonic aciduria, Failure to thrive, Acrocyanosis, Retinal vascular tortuosity	ORPHA:51188
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Acute kidney injury, Abnormality of the pulmonary vasculature, Purpura, ...	ORPHA:93126
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Sandwich appearance of vertebral bodies, Ectopic ant...	OMIM:620558
Hemorrhagic Fever-Renal Syndrome	Decreased glomerular filtration rate, Decreased urine output, Oliguria, Acute kidney injury, Pete...	ORPHA:340
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Nail bed telangiectasia, Clubbing, Nasal mucosa telangiectasia, Cerebral a...	OMIM:600376
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus	OMIM:150260
Primary Sjögren Syndrome	Increased circulating antibody level, Bronchitis, Optic neuritis, Abnormal spinal cord morphology...	ORPHA:289390
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Infertility, Renal artery stenosis, Abnormal autonomic nervou...	ORPHA:71273
Intellectual Developmental Disorder, Autosomal Dominant 58	Facial hypotonia, Dental crowding, Single transverse palmar crease, High palate, Protruding tongu...	OMIM:618106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Ragged-red muscle fibers, Sensorineural hearing impairment, Seco...	OMIM:157640
Acquired Von Willebrand Syndrome	Hematuria, Pulmonic stenosis, Aortic valve stenosis, Menorrhagia, Intracranial hemorrhage, Metror...	ORPHA:99147
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Bowing of the legs, Renal insuff...	OMIM:615605
Immunoglobulin A Vasculitis	Optic atrophy, Glomerulopathy, Purpura, Hematuria, Vascular skin abnormality, Vasculitis, Angioed...	ORPHA:761
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Hyperoxaluria, Primary, Type I	Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Hyperoxa...	OMIM:259900
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal...	ORPHA:231580
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Calf muscle pseudohypert...	ORPHA:352479
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Plague	Mydriasis, Abnormality of the elbow, Glossitis, Acute infectious pneumonia, Respiratory distress,...	ORPHA:707
Full Nf2-Related Schwannomatosis	Spinal cord tumor, Retinal hamartoma, Posterior subcapsular cataract, Hydrocephalus, Sensorineura...	ORPHA:637
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Thin ribs, Retinal hemorrhage, Congenital contracture, Death...	OMIM:615368
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio...	ORPHA:656
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Pterygium, Aplasia of the bladder, Congenital pyloric atresia, Ureterocele, Enamel hyp...	ORPHA:79403
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Pneumonia, Pleuritis, Acute colitis, Anuria, Intestinal perfora...	ORPHA:544482
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Chronic kid...	OMIM:613845
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Corneal erosion, Abnormality of the anus, Anterior uveitis, Sy...	ORPHA:95455
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Sensorineural hearing impairment, Nephrotic syndrome, Proteinu...	OMIM:615244
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Respiratory distress, Death in adolescence, Kyphosis, Death in infancy,...	OMIM:615512
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:610725
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Glycosuria, Hyperphosphaturi...	ORPHA:411629
Papa Syndrome	Myositis, Proteinuria, Type I diabetes mellitus, Increased circulating antibody level	ORPHA:69126
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect	OMIM:178650
Hypoglossia-Hypodactylia	Retrognathia, Adactyly, Narrow mouth, Split hand, Micrognathia, Microglossia, Aglossia	OMIM:103300
Cryptococcosis	Pneumonia, Prostatitis, Respiratory distress, Hydrocephalus, Abnormal retinal morphology, Abnorma...	ORPHA:1546
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Vasculitis, Increased circulating...	ORPHA:343
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Multiple muscular ventricular septal defects, Pulmonic stenosis,...	OMIM:615508
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Hereditary Angioedema Type 1	Limbal edema, Abnormal soft palate morphology, Respiratory distress, Dyspnea, Abnormal uvula morp...	ORPHA:100050
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Acute kidney injury, Abnormality of masseter muscle, Necrotizing myopathy, ...	ORPHA:423
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Familial Mediterranean Fever, Autosomal Dominant	Pleuritis, Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage	ORPHA:238459
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Elevated urinary norepinephrine level, Cerebral hemorrhage, Proteinuria, Hypert...	OMIM:171420
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Urethral obstruction, Nephrotic syndrome,...	ORPHA:2035
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Coronary artery atherosclerosis, Sensorineural hearing impairment, Renal artery stenosis, Diabete...	OMIM:209010
Frasier Syndrome	Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Ovarian gonad...	OMIM:136680
Obesity-Hypoventilation Syndrome	Hypoventilation, Obesity, Cyanosis	OMIM:257500
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Holoprosencephaly 3	Central diabetes insipidus, Cyclopia, Solitary median maxillary central incisor, Bifid uvula, Cle...	OMIM:142945
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Rectal abscess, Pleural effusion, Recurrent pneumonia, Impaired oxi...	OMIM:306400
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Respiratory distress, Stroke, Transient ischemic attack, Mic...	OMIM:274150
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:289548
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Decreased nerve conduction velocity, Torticollis, Short-segment aganglioni...	OMIM:609136
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter, Failure to thrive, Lacticac...	OMIM:615595
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate, Overfolded helix	ORPHA:209908
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis...	OMIM:605432
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Ascending tubular aorta aneurysm	OMIM:620376
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Hydrocephalus, Bifid uvula, Bifid uterus, Unilateral cleft lip, ...	ORPHA:2736
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, ...	OMIM:194080
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Jaundice, Duplicated collecting system, Sensorineural hearing impairment, Failure to thrive, Hydr...	OMIM:617093
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Angioedema, Swollen lip, Erythema, Respiratory distress	ORPHA:100057
Colchicine Poisoning	Myocarditis, Oliguria, Renal insufficiency, Respiratory distress	ORPHA:31824
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Glomerular sclerosis, Microtia, Skin fragility with non-scarring blistering, ...	ORPHA:158684
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp...	OMIM:613388
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis...	OMIM:103900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epith...	OMIM:219900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac...	ORPHA:168558
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Retinal arterial occlusion, Abn...	ORPHA:98977
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Back pain, Ureteropelvic junction obstructi...	OMIM:143400
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Corneal astigmati...	ORPHA:141083
Pure Mitochondrial Myopathy	Recurrent myoglobinuria, Scoliosis, Scapular winging, Shoulder girdle muscle weakness, Rhabdomyol...	ORPHA:254854
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Ana...	ORPHA:2973
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Myasthenia Gravis	Myositis, Dyspnea, Hearing impairment, Glycosuria, Primary adrenal insufficiency, Hashimoto thyro...	ORPHA:589
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Prominent palatine ridges, Posterio...	ORPHA:488437
Denys-Drash Syndrome	Gonadal dysgenesis, Male pseudohermaphroditism, Nephrotic syndrome, Proteinuria, Nephroblastoma, ...	ORPHA:220
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Respiratory distress, Hypoplast...	OMIM:305100
Pitt-Hopkins-Like Syndrome 2	Scoliosis, Protruding tongue, Pulmonic stenosis, Wide mouth, Hyperventilation	OMIM:614325
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Micrognathia, Hors...	OMIM:266810
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Hearing impairment, Conjunctival telangiectasia, Proximal amyotrophy, Cochlear deg...	ORPHA:95433
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Increased urinary glycerol, Dyspnea, Intermittent hyperventilation, Apneic ...	ORPHA:348
Watson Syndrome	Pectus carinatum, Low-set ears, Pulmonic stenosis, Posteriorly rotated ears, Lisch nodules	OMIM:193520
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Respiratory distres...	ORPHA:635
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology	ORPHA:97330
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Male infertility, Ileus, Clubbing of fingers, Hypercalciuria, Mecon...	OMIM:219700
Treacher Collins Syndrome 2	Retrognathia, Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Micrognathi...	OMIM:613717
Hellp Syndrome	Acute kidney injury, Pulmonary edema, Increased body weight, Pleural effusion, Back pain, Protein...	ORPHA:244242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Myoglobinuria, Increased body weight, Limb-girdle muscle weakness, Rhabdo...	ORPHA:79240
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Renal tubular dysfunction, Hypercalciuria, Beta 2-microglobulinuria, H...	OMIM:227810
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis, Dyspnea	ORPHA:2004
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di...	OMIM:610655
Birk-Barel Syndrome	Sacral dimple, Short philtrum, Single transverse palmar crease, High palate, Reduced subcutaneous...	OMIM:612292
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Isolated Exencephaly	Abnormal facial skeleton morphology, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia...	ORPHA:563612
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Acrocyanosis	ORPHA:49566
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Dyspnea, Respiratory distress	ORPHA:330021
Primary Dystonia, Dyt4 Type	Kyphoscoliosis, Torticollis, Respiratory distress, Eunuchoid habitus, Open mouth	ORPHA:98805
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Exercise-indu...	OMIM:300559
Naxos Disease	Right ventricular cardiomyopathy, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, ...	OMIM:601214
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Low-set ears, Kyphosis, Epiphyseal...	ORPHA:420794
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Diabetes...	OMIM:616026
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Retinal dystrophy, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:300653
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Myoglobinuria, Muscle fiber necrosis, Increased variability in...	OMIM:620138
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth shape, Abnormal iliac wing mor...	ORPHA:3003
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Thyroid Lymphoma	Respiratory distress, Dyspnea, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Premature arteriosclerosis, Renal steatosis, Tendon xanthomatosis, Pr...	ORPHA:391665
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Craniosynostosis 4	Retrognathia, Optic nerve hypoplasia, Malar flattening, Ectopic posterior pituitary	OMIM:600775
Eosinophilic Fasciitis	Myositis, Muscular edema, Weight loss, Acrocyanosis	ORPHA:3165
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber...	ORPHA:57
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Dyspnea, Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal ...	OMIM:255125
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Respiratory distress, Elevated urine 2-methylcitric...	OMIM:251100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pleural effusion, Dyspnea, Focal segmental glomerulosclerosis,...	ORPHA:567546
Atelosteogenesis Type Iii	Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,...	ORPHA:56305
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	ORPHA:713
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria, Death in childhood, Bilateral cryptorchidism	OMIM:619685
Glycogen Storage Disease Vii	Increased muscle glycogen content, Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelith...	OMIM:232800
Neuroendocrine Neoplasm Of Appendix	Ovarian neoplasm, Adrenocorticotropic hormone excess, Midgut malrotation, Tricuspid stenosis, Ade...	ORPHA:100079
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Atretic vas deferens, Decreased numbers of ...	OMIM:137920
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, External genital hypoplasia, Jaundice, Gingival overgrowth, High palate, Obesity, ...	OMIM:614231
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia	OMIM:168550
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Tachypnea, Respiratory distress	OMIM:237310
Cardiogenic Shock	Vertigo, Dyspnea, Hypoxemia, Orthopnea, Oliguria, Cyanosis	ORPHA:97292
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Oral ulcer, Nephrolithias...	OMIM:232220
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Muscle fiber atrophy, Rhabdomy...	ORPHA:228302
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Rectovaginal fistula, Hydrocephalus, Oligodactyly, Perineal fistula, Ec...	ORPHA:3016
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Podocyte foot process effacement, Nephrotic sy...	OMIM:619155
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Nephrolithiasis, Focal se...	OMIM:232200
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis, Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Genetic Recurrent Myoglobinuria	Acute kidney injury, Proximal muscle weakness in upper limbs, Exercise-induced myoglobinuria, Abn...	ORPHA:99845
Goodpasture Syndrome	Ground-glass opacification, Cyanosis, Reticular pattern on pulmonary HRCT, Exertional dyspnea, Gl...	OMIM:233450
Glycogen Storage Disease X	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:261670
Kennedy Disease	Erectile dysfunction, Type II diabetes mellitus, Skeletal muscle atrophy, Decreased fertility, Te...	ORPHA:481
Developmental And Epileptic Encephalopathy 68	Failure to thrive, Flexion contracture, Respiratory distress	OMIM:618201
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Protein-losing enteropathy, Stomach cancer, Diarrhea, Hamartomatous ...	ORPHA:2929
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis, Neonatal death	OMIM:602199
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Myoglobinuria, Abnormal autonomic nervous system physi...	ORPHA:94093
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Palmoplantar hyperkeratosis	ORPHA:2364
Glycogen Storage Disease V	Myoglobinuria, Rhabdomyolysis, Dark urine, Exercise-induced rhabdomyolysis	OMIM:232600
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Calf muscle hypertrophy, Decreased fertility, Testicular atrophy, Limb muscle weakness	OMIM:313200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai...	OMIM:134600
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Death in childhood, Optic nerve compression, Hydrocephalus, Death ...	OMIM:612301
Glycogen Storage Disease Xi	Myoglobinuria, Rhabdomyolysis, Renal insufficiency	OMIM:612933
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Rhabdomyolysis, Renal insufficiency	OMIM:255110
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal ...	ORPHA:63260
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Narrow chest, R...	OMIM:614748
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ...	OMIM:618426
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of...	OMIM:273250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat...	OMIM:609040
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute rhabdomyolysis, Acute kidney injury, Myoglobinuria	OMIM:268200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Exercise-induced rhabdomyolysis, Chronic kid...	ORPHA:284426
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Skeletal muscle atrophy	ORPHA:98895
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno...	ORPHA:99429
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy	OMIM:278300
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Jaundice, Conjunctival icterus, Hemosiderinuria, Stroke, Dyspnea, Impotence,...	ORPHA:447
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Dyspnea, Arterial stenosis	ORPHA:228116
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Pleural effusion, Focal segmental glomerulosclerosis, Nephrotic synd...	OMIM:254900
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Osteogenesis Imperfecta, Type Xv	Scoliosis, Thin ribs, Platyspondyly	OMIM:615220
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Rhabdomyolysis	OMIM:145600
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Hypogonadism, Pulmonary fibrosis, Oral leukoplakia, Testicu...	OMIM:618165
Von Hippel-Lindau Disease	Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Elevated cir...	ORPHA:892
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral hypoplasia of pectoralis major muscle, Aplasia/Hypoplasia involving bones of the skull...	ORPHA:1521
Lesch-Nyhan Syndrome	Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, Hip dislocation	OMIM:300322
Congenital Tricuspid Stenosis	Tricuspid stenosis	ORPHA:95459
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia	ORPHA:1203
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k...	OMIM:612925
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Cholelithiasis, Hemoglobinuria, Conjunctival icterus	OMIM:194380
Glycogen Storage Disease Ic	Delayed puberty, Hematuria, Decreased glomerular filtration rate, Stomatitis, Spider hemangioma, ...	OMIM:232240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612926
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Respiratory distress, Death in infancy, Failure to thrive, 4-Hydroxyphenylpyruvic acidu...	OMIM:617156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612924
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Intestinal polyposis, Arteriovenous malformation, N...	ORPHA:774
Glycogen Storage Disease Xii	Muscle fiber splitting, Delayed puberty, Jaundice, Cholelithiasis, Increased variability in muscl...	OMIM:611881
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology	OMIM:123550
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Pyuria, Cutaneous photosensitivity, Oral ulcer, Retinopathy, Proteinuria, W...	ORPHA:536
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Spina bifida, Rena...	ORPHA:83628
Paroxysmal Cold Hemoglobinuria	Back pain, Recurrent respiratory infections, Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Isolated Arrhinia	Tessier cleft, Microtia, Hypoplasia of the nasal bone, Respiratory distress	ORPHA:1134
Imerslund-Grasbeck Syndrome 2	Lumbar kyphosis, Recurrent urinary tract infections, Proteinuria, Renal insufficiency, Moderate a...	OMIM:618882
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia	OMIM:613987
Myasthenic Syndrome, Congenital, 21, Presynaptic	Knee flexion contracture, Meconium ileus, Apnea, Weakness of facial musculature, Cyanosis	OMIM:617239
Kasabach-Merritt Phenomenon	Purpura, Respiratory distress, Petechiae, Abnormal lymphatic vessel morphology, Hypopnea	ORPHA:2330
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis	OMIM:619431
Paroxysmal Nocturnal Hemoglobinuria 2	Dyspnea, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Acute colitis, Anuria, Intestinal perforation, Colonic sten...	ORPHA:90038
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness	OMIM:612300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Prolonged neonatal jaundice, Jaundice, Hemoglobinuria	OMIM:300908
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va...	OMIM:158330
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Hydatidiform Mole	Miscarriage, Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short umbilical cord, Short femur, Short humerus, Tapered finger	OMIM:618367
Fraser Syndrome 1	Abnormal small intestine morphology, Cleft palate, Abnormality of the anus	OMIM:219000

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 Tgfb2

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 Tgfb2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mesenchyme-specific deletion of Tgf-β1 in the embryonic lung disrupts branching morphogenesis and induces lung hypoplasia.	Laboratory investigation; a journal of technical methods and pathology (April 2019)	Tgfb2^{tm1c(EUCOMM)Hmgu}	31028279
Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene.	Genesis (New York, N.Y. : 2000) (June 2014)	Tgfb2^{tm1c(EUCOMM)Hmgu} Tgfb2^{tm1a(EUCOMM)Hmgu}	PMC4270118

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
Tgfb2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tgfb2^em1(IMPC)H	Exon Deletion	Mice
Tgfb2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tgfb2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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