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Gene: Tulp4 MGI:1916092

Gene Summary

Name:

TUB like protein 4

Synonyms:

1110057P05Rik, 2210038L17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Tulp4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal urinary bladder morphology	Tulp4^em1(IMPC)Mbp	HET	Early adult	0.00
hydrometra	Tulp4^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Tulp4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal uterus morphology	Tulp4^em1(IMPC)Mbp	HET	Early adult	0.00
enhanced cued conditioning behavior	Tulp4^em1(IMPC)Mbp	HET	Early adult	5.81×10^-05

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

10 Images

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Human diseases caused by Tulp4 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 Tulp4 (0 diseases)
Human diseases predicted to be associated with Tulp4 (881 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tulp4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Low-set ears, Double outlet right ventric...	OMIM:231060
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Hearing impairment, Goiter	OMIM:617577
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Aortic Aneurysm, Familial Thoracic 4	Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Stroke, Posterior cerebral art...	OMIM:132900
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc...	OMIM:618300
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Transaldolase Deficiency	Cirrhosis, Hydrops fetalis, Abnormal clitoris morphology, Premature skin wrinkling, Coarctation o...	ORPHA:101028
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Meacham Syndrome	Stillbirth, Transposition of the great arteries, Death in childhood, Dextrocardia, Cardiac total ...	OMIM:608978
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ...	OMIM:620294
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct...	OMIM:618845
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Recurrent otitis media	OMIM:617616
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Decreased response to growth hormone stimulation test, Decreased cirrculatin...	OMIM:300845
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment, Coarctation of aorta, Abnormal he...	ORPHA:284169
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Abnormal aortic valve morphology, Abnormal helix morphology, Death...	ORPHA:1120
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-set ears, ...	OMIM:617478
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenous fistula, Telangiectasia of...	ORPHA:141179
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Abnormal cardiac ventricle ...	ORPHA:2306
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi...	ORPHA:3384
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Ataxia-Telangiectasia	Premature graying of hair, Elevated circulating hepatic transaminase concentration, Hypopigmentat...	ORPHA:100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Protruding ear, Recurrent otitis media, Persistent left superior vena cava, Pulmonic stenosis, Ma...	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Anemia, Low-set ears, Death in infancy, Hypothyroidism,...	OMIM:608104
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Premature thelarche, Nodular goiter, Coarctation of aorta, Mitral valve pro...	ORPHA:371428
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Wide anterior fontanel, ...	OMIM:606003
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion	OMIM:252350
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Congestive heart failure, Peripheral arteriovenous fistula, Telangiectasia of...	ORPHA:141184
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic d...	OMIM:619825
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Maternal diabetes, A...	ORPHA:860
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Low-set ears, Coarctation of aorta, Secundum atrial sep...	OMIM:600987
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Patent foramen ovale, Abnormal pinna morphology, Persistent left superior vena c...	ORPHA:477817
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:319487
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
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
Microphthalmia, Syndromic 9	Multilobulated spleen, Right aortic arch with mirror image branching, Hypoplastic left atrium, Tr...	OMIM:601186
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Benign Schwannoma	Abnormal fibula morphology, Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abno...	ORPHA:252164
Double Outlet Right Ventricle	Hypoparathyroidism, Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary arter...	ORPHA:3426
Mastocytosis, Cutaneous	Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Muscular dystrophy, Ankle flexion contracture, Hepatomegaly, Elevated circulating ...	OMIM:608799
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent otitis media, Dextrocardia	OMIM:618254
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Patent for...	ORPHA:500159
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Capillary Malformation-Arteriovenous Malformation 2	Vein of Galen aneurysmal malformation, Telangiectasia	OMIM:618196
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept...	OMIM:601927
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Telangiectasia, Hereditary Benign	Diffuse telangiectasia, Vascular dilatation	OMIM:187260
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se...	OMIM:619657
Phace Association	Vascular dilatation, Aortic aneurysm, Congenital hypothyroidism, Coarctation of aorta, Arterial s...	OMIM:606519
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Polyhydramnios, Bell-shaped thorax, Narrow chest, Short long bone, Cryptor...	OMIM:615633
Kallmann Syndrome-Heart Disease Syndrome	Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic...	ORPHA:2326
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Moyamoya Disease	Telangiectasia, Abnormal cerebral vascular morphology	ORPHA:2573
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Sensorineural hearing impairment, Abnormal vestibular function, Tetralogy of Fallot, Ventricular ...	OMIM:617992
Bardet-Biedl Syndrome 2	Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated cardiomyopathy	OMIM:615981
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Death in childhood, Howell-Jolly bodies, Pulmonary artery atresia, Left superior vena cava draini...	OMIM:613759
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati...	ORPHA:185
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Hepatomegaly, Lymphedema, Hypertrophic cardiomyopathy, Generalized amyotrophy, Tel...	ORPHA:79279
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Aortic aneurysm, Death in infancy, Multiple muscular ventricular septal defects, Pericardial effu...	OMIM:620070
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Patent foramen ovale, Pulmonic stenosis, Hearing impairment, Patent ductus a...	OMIM:619149
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Low-set ears, Macrotia, Patent ductus arteriosus, Bicuspid aortic valve, Cr...	OMIM:615009
Werner Syndrome	Rocker bottom foot, Premature graying of hair, Hypertension, White forelock, Hypogonadism, Abnorm...	ORPHA:902
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Low-set ears, Pulmonic stenosis, Hearing impairment, Tetralogy of Fall...	OMIM:179613
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Weiss-Kruszka Syndrome	Protruding ear, Microtia, Low-set ears, Hearing impairment, Horizontal crus of helix, Dextrotrans...	OMIM:618619
Birk-Aharoni Syndrome	Hearing impairment, Muscular ventricular septal defect, Cryptorchidism, Macrocytic anemia	OMIM:620071
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Car...	ORPHA:91387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia...	OMIM:618316
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Hearing impairment, Bicuspid aortic valve, Ventricular septal defect, Doubl...	OMIM:616652
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aortic arch, Pulmo...	OMIM:192430
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Low-set ears, Pulmonic...	OMIM:220210
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Metaphyseal striations, Livedo, Recurrent upper res...	OMIM:615139
Coarctation Of Aorta	Coarctation of aorta, Hypoplastic left heart	OMIM:120000
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1	Central retinal vessel vascular tortuosity, Retinal telangiectasia	OMIM:619382
Hypoplastic Left Heart Syndrome	Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atr...	ORPHA:2248
Cardiac Valvular Dysplasia 2	Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic val...	OMIM:620067
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Protruding ear, Patent foramen ovale, Ventricular septal defect, Low-set ears, Macrotia, Patent d...	ORPHA:329224
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve...	OMIM:619343
Craniofaciofrontodigital Syndrome	Anomalous branches of internal carotid artery, Dilatation of the cerebral artery, Cardiomegaly, P...	ORPHA:363705
Sneddon Syndrome	Ischemic stroke, Stroke, Cerebral hemorrhage, Lymphopenia, Bicuspid aortic valve	OMIM:182410
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch	OMIM:620511
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:300049
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Abnormality of the lymphat...	ORPHA:69735
Intellectual Developmental Disorder, X-Linked 106	Decreased testicular size, Bicuspid aortic valve, Cryptorchidism, Low-set ears	OMIM:300997
Limited Cutaneous Systemic Sclerosis	Foot joint contracture, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fi...	ORPHA:220402
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Low-set ears, Hydrocele testis	OMIM:620062
Pendred Syndrome	Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ...	OMIM:274600
Familial Bicuspid Aortic Valve	Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ...	ORPHA:402075
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Sensorineural hearing impairment, Low-set ears, Patent ductus arteriosus,...	OMIM:617751
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Low-set ears, Pulm...	OMIM:617877
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Capillary Malformation-Arteriovenous Malformation	Congestive heart failure, Abnormality of the musculature of the limbs, Arteriovenous malformation...	ORPHA:137667
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S...	ORPHA:100093
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Obesity, Sparse body hair, Hypogonadism, Cryptorchidism, Micropenis, Tapered...	ORPHA:85274
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri...	OMIM:178600
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat...	OMIM:187300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulmonary veins, Patent fo...	OMIM:265380
Rombo Syndrome	Facial telangiectasia, Abnormal eyelash morphology, Abnormal eyebrow morphology	OMIM:180730
Cutaneous Mastocytoma	Erythema, Peau d'orange, Hypotension, Angioedema, Darier's sign, Telangiectasia of the skin, Flus...	ORPHA:79455
Lateral Meningocele Syndrome	Aortic aneurysm, Ventricular septal defect, Low-set ears, Abnormality of the middle ear ossicles,...	OMIM:130720
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Retinal telangiectasia, Telangiectasia of the skin, Cutaneous ph...	ORPHA:438134
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Obesity, Thick eyebrow, Cryptorchidism, Tapered finger	OMIM:309585
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Protruding ear, Abnormal aortic morphology, Cryptorchidism, Tetralogy of Fallot, Abnormality of t...	ORPHA:1166
Congenital Sialidosis Type 2	Optic atrophy, Polydactyly, Hepatomegaly, Petechiae, Generalized hypertrichosis, Ascites, Hepatos...	ORPHA:93400
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization...	OMIM:619371
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Short clavicles, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contracture, Hyperg...	OMIM:212112
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis	OMIM:615542
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Crumpled ear, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aor...	OMIM:121050
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Myositis, Failure to thrive, Paratracheal lymphadenopathy, Cutis marmorata, Rayna...	OMIM:615934
Aorto-Ventricular Tunnel	Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m...	ORPHA:3400
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Underdeveloped trag...	OMIM:618804
Phace Syndrome	Abnormal carotid artery morphology, Aortic root aneurysm, Hypothyroidism, Coarctation of aorta, A...	ORPHA:42775
Kleefstra Syndrome	Chronic otitis media, Cryptorchidism, Pulmonary artery stenosis, Hearing impairment, Coarctation ...	ORPHA:261494
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Stroke, Ret...	OMIM:192315
Heterotaxy, Visceral, 1, X-Linked	Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit...	OMIM:306955
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Arteriovenous malformation, Finger syndactyly, Cerebral ischemia, Foot polydactyly...	ORPHA:60040
Alagille Syndrome	Hypoplasia of the ulna, Hepatomegaly, Clinodactyly of the 5th finger, Spina bifida occulta, Hyper...	ORPHA:52
Coronary Artery Disease, Autosomal Dominant, 1	Myocardial infarction, Obesity, Hypertension, Premature coronary artery atherosclerosis	OMIM:608320
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma...	ORPHA:774
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Bicuspid aortic valve, Recurrent otitis media, Anemia, Pancytopenia, Aortic root aneurysm, Ventri...	OMIM:620654
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Tall stature, Thin metacarpal cortices, Slender long bone, Thin metatarsal cortices, Hypoplasia o...	ORPHA:2463
Baraitser-Winter Syndrome 1	Sensorineural hearing impairment, Low-set ears, Aortic valve stenosis, Patent ductus arteriosus, ...	OMIM:243310
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Low-set ears	OMIM:617450
Thyroid Dyshormonogenesis 3	Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism	OMIM:274700
Coffin-Siris Syndrome 7	Recurrent otitis media, Patent foramen ovale, Low-set ears, Hearing impairment, Macrotia, Posteri...	OMIM:618027
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Right aortic arch, Abnormal inferior vena cava morpholo...	ORPHA:980
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Enlarged tonsils, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Uv-Sensitive Syndrome 3	Telangiectasia, Cutaneous photosensitivity	OMIM:614640
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre...	OMIM:188570
Loeys-Dietz Syndrome 4	Arterial tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosity, A...	OMIM:614816
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:601612
Sotos Syndrome	Muscular ventricular septal defect, Ventricular septal defect, Low-set ears, Macrotia, Conductive...	OMIM:117550
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Bardet-Biedl Syndrome 5	Polydactyly, External genital hypoplasia, Obesity, Syndactyly, Brachydactyly, Hypogonadism, Micro...	OMIM:615983
Hydroa Vacciniforme	Hydroa vacciniforme, Telangiectasia of the skin, Erythema, Cutaneous photosensitivity	ORPHA:330058
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Cyanosis, Clubbing, Transient ischemic att...	ORPHA:2038
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels...	ORPHA:280779
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Abnormality of the lymphatic system, Overgrowth, Foot polydactyly, 2-4 toe syndacty...	ORPHA:276280
Phaver Syndrome	Hypoplastic aortic arch, Aplasia/Hypoplasia of the earlobes, Pulmonary artery atresia, Low-set ea...	ORPHA:2876
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Cl...	OMIM:600376
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Primary Ciliary Dyskinesia	Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit...	ORPHA:244
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu...	OMIM:274500
Spermatogenic Failure, X-Linked, 1	Obesity, Sertoli cell-only phenotype	OMIM:305700
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, H...	OMIM:617805
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Bannayan-Riley-Ruvalcaba Syndrome	Tall stature, Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Cachexia, Lymphedema,...	ORPHA:109
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa...	OMIM:605275
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Uv-Sensitive Syndrome 1	Telangiectasia, Cutaneous photosensitivity	OMIM:600630
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Stroke, Ventricular hypertrop...	OMIM:115197
Retinitis Pigmentosa 89	Bicuspid aortic valve, Hepatosplenomegaly	OMIM:618955
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Hearing impairment, Tetralogy of Fa...	ORPHA:1727
Loeys-Dietz Syndrome 6	Dilatation of the cerebral artery, Arterial tortuosity, Vertebral artery aneurysm, Ventricular hy...	OMIM:619656
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Dermatological manifestations of system...	ORPHA:97287
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Hearing impairment,...	ORPHA:363444
Fetal Iodine Deficiency Disorder	Congenital goiter, Hearing impairment, Congenital hypothyroidism	OMIM:228355
Snijders Blok-Campeau Syndrome	Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect, Low-set ears	OMIM:618205
Acrogeria	Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Fine hair, Shor...	ORPHA:2500
Intellectual Developmental Disorder, X-Linked 112	Right aortic arch, Abnormal heart morphology, Bicuspid aortic valve, Cryptorchidism, Pancreatic c...	OMIM:301111
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Cutis marmorata, Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Telangiectasia of extensor surfaces, Palpebral edema, Absent eyelashes, Lymphedema, Sparse scalp ...	OMIM:137940
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter, Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged v...	OMIM:600791
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp...	ORPHA:2847
Grange Syndrome	Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis, Coronary artery stenosis	OMIM:602531
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter, Cerebral vasculitis	ORPHA:83601
Congenital Tracheomalacia	Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra...	ORPHA:95430
Tempi Syndrome	Abnormality of the pulmonary vasculature, Facial erythema, Transudative pleural effusion, Ascites...	ORPHA:284227
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microtia, Adrenal hypoplasia, Panhypopitui...	OMIM:146510
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Calf muscle hypertrophy, Z-band streaming, EMG: myopathic abnor...	OMIM:619178
Prolidase Deficiency	Hepatomegaly, Diffuse telangiectasia, Facial hirsutism, Petechiae, Low posterior hairline, Failur...	OMIM:170100
Lig4 Syndrome	Clinodactyly of the 5th finger, Cutaneous photosensitivity, Failure to thrive, Low anterior hairl...	OMIM:606593
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Syndromic Diarrhea	Thrombocytosis, Lymphopenia, Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet vo...	ORPHA:84064
Koolen-De Vries Syndrome	Aortic root aneurysm, Ventricular septal defect, Anteverted ears, Pulmonic stenosis, Macrotia, Pa...	OMIM:610443
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Pulmonary artery atresia, Low-set ears, Pulmonic stenosis, Hearing imp...	OMIM:301056
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Bicuspid aortic valve, Pulmonic stenosis	OMIM:616201
Clapo Syndrome	Macrodactyly, Tall stature, Venous malformation, Narrow chest, Lymphedema, Overgrowth, Pectus exc...	ORPHA:168984
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Cardiac Valvular Dysplasia, X-Linked	Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Short chordae tendineae of th...	OMIM:314400
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal neovascularization, Hypertension, Cardiomyopathy, Abnormalit...	ORPHA:247691
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Premature coronary artery atherosclerosis, Azoospermia, Hypertension, O...	OMIM:615703
Pendred Syndrome	Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot...	ORPHA:705
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal helix morphology, Ventr...	ORPHA:453499
Cutis Marmorata Telangiectatica Congenita	Purpura, Arteriovenous malformation, Finger syndactyly, Ascites, Short lower limbs, Cutis marmora...	ORPHA:1556
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Distal Deletion 15Q	Abnormal aortic arch morphology, Patent ductus arteriosus, Low-set ears, Mitral atresia, Hearing ...	ORPHA:1596
X Small Rings	Protruding ear, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve, Ventricular septal ...	ORPHA:96201
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu...	OMIM:270100
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Adrenal in...	ORPHA:251076
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent ductu...	OMIM:620570
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Clubbing, Aortic dis...	OMIM:175050
Cantu Syndrome	Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Patent duc...	OMIM:239850
Diabetic Embryopathy	Transposition of the great arteries, Low-set, posteriorly rotated ears, Microtia, Abnormal aortic...	ORPHA:1926
Bardet-Biedl Syndrome 10	Polydactyly, Obesity, Hypogonadism, Renal cyst	OMIM:615987
Telangiectasia, Hereditary Hemorrhagic, Type 5	Spontaneous, recurrent epistaxis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:615506
Feingold Syndrome Type 1	Tricuspid atresia, Interrupted aortic arch, Sensorineural hearing impairment, Tricuspid stenosis,...	ORPHA:391641
Lig4 Syndrome	Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Cutaneous photosensitivity, Hypopl...	ORPHA:99812
Mandibulofacial Dysostosis With Alopecia	Protruding ear, Stenosis of the external auditory canal, Microtia, Low-set ears, Conductive heari...	OMIM:616367
Holt-Oram Syndrome	Pectus excavatum, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal metacarpal mo...	ORPHA:392
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Recurrent otitis media, Hypoplastic aortic arch, Patent foram...	OMIM:157800
Leber Hereditary Optic Neuropathy	Optic atrophy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy	ORPHA:104
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, M...	ORPHA:1110
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Patent foramen ...	OMIM:225250
Jeune Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma...	ORPHA:474
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology, Type A brachydactyly	ORPHA:1078
Facioscapulohumeral Muscular Dystrophy 1	Scapulohumeral muscular dystrophy, Retinal telangiectasia, Calf muscle hypertrophy, Facial palsy,...	OMIM:158900
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal eyebrow morphology, ...	ORPHA:1606
Maternal Phenylketonuria	Hypoplastic helices, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double...	ORPHA:2209
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of...	ORPHA:50944
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Hypochromic microcytic anemia, Bilateral sensorineural hearin...	ORPHA:66634
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,...	ORPHA:95716
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Coxa valga,...	ORPHA:3342
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Cutaneous photosensitivity, Obesity, Crypt...	ORPHA:3055
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Thyroid Cancer, Nonmedullary, 4	Goiter, Ovarian neoplasm, Papillary thyroid carcinoma	OMIM:616534
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100080
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Simpson-Golabi-Behmel Syndrome, Type 2	Short finger, Recurrent lower respiratory tract infections, Postaxial hand polydactyly, Broad thu...	OMIM:300209
Ramon Syndrome	Failure to thrive, Generalized hirsutism, Telangiectasia of the skin	ORPHA:3019
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane...	ORPHA:229
H Syndrome	Lymphadenopathy, Recurrent pharyngitis, Abnormal cardiovascular system physiology, Azoospermia, H...	ORPHA:168569
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Vascular dilatation, Excessive wrinkled skin, Angina pectoris, Hyper...	ORPHA:758
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Broad toe, Short 2n...	OMIM:612582
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid agenesis, Atrioventricular canal defect, Abnormal antihelix morphology, Thyroid hypoplasi...	ORPHA:3047
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Livedo, Alopecia, Sparse lateral eyebrow, Facial telangiectasia, Te...	OMIM:614564
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Persistent left superior vena cava,...	OMIM:615067
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
Methimazole Embryofetopathy	Abnormal aortic morphology, Hypothyroidism, Coarctation of aorta, Abnormality of the thyroid glan...	ORPHA:1923
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Venous insufficiency, Abnormality of the peripher...	ORPHA:542643
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Sensorineural...	ORPHA:209905
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Low-set ears, Tetralogy of Fallot, Posteriorly...	OMIM:612946
Chromosome 9P Deletion Syndrome	Perimembranous ventricular septal defect, Low-set ears, Prominent antihelix, Posteriorly rotated ...	OMIM:158170
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Bardet-Biedl Syndrome 4	Polydactyly, External genital hypoplasia, Renal cyst, Obesity, Syndactyly, Brachydactyly, Hypogon...	OMIM:615982
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male hypogonadism, Elevate...	OMIM:615381
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Pulmonary artery atresia, Low-set ears, Supravalvar pulmonary stenosis,...	OMIM:618164
Down Syndrome	Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Microtia, Myelopro...	OMIM:190685
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Premature graying of hair, Coxa vara, Facial telangiectasia, External tibial torsion, Genu varum	OMIM:620445
Partington Syndrome	Facial telangiectasia, Macroorchidism	ORPHA:94083
Grange Syndrome	Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus	ORPHA:79094
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorma...	ORPHA:261183
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Monosomy 18Q	Pulmonary valve defects, Dysplastic pulmonary valve, Aortic aneurysm, Sensorineural hearing impai...	ORPHA:1600
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Dilation of Virchow-Robin spaces, Low-set ears, Posteriorly rotated ears, Bicuspid aortic valve, ...	OMIM:619720
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Aortic root aneurysm, Pec...	OMIM:208050
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Simple ear	OMIM:619318
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Recurrent respiratory infections, Slender long ...	OMIM:234100
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Spider hemangioma, Cholestasis, Ascites,...	ORPHA:171
Klippel-Trénaunay Syndrome	Congestive heart failure, Tall stature, Hydrops fetalis, Hepatomegaly, Gastrointestinal hemorrhag...	ORPHA:90308
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao...	OMIM:610168
Infantile Systemic Hyalinosis	Lymphedema, Failure to thrive, Short palm, Camptodactyly of finger, Urticaria, Telangiectasia of ...	ORPHA:2176
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Hearing impairment, Atrial septal defect, Hypoplastic left heart	OMIM:619721
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality...	ORPHA:268882
Atypical Werner Syndrome	Rocker bottom foot, Premature graying of hair, Calf muscle hypertrophy, Hypertension, White forel...	ORPHA:79474
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Juvenile Dermatomyositis	Palpebral edema, Gastrointestinal hemorrhage, Calcinosis, Cutaneous photosensitivity, Angina pect...	ORPHA:93672
Squalene Synthase Deficiency	Low-set ears, Bilateral cryptorchidism, Macrotia, Posteriorly rotated ears, Bicuspid aortic valve	OMIM:618156
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Goite...	OMIM:275000
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100082
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Short ribs, Hypoplasti...	ORPHA:2092
Adams-Oliver Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Tetralogy of Fallot, Bicuspi...	OMIM:100300
Giant Cell Arteritis	Mediastinal lymphadenopathy, Diabetes insipidus, Vasculitis, Vertigo, Double outlet right ventric...	ORPHA:397
You-Hoover-Fong Syndrome	Hearing impairment, Coarctation of aorta, Vascular ring, Double aortic arch	OMIM:616954
Tetrasomy 15Q26	Hypoplastic aortic arch, Low-set ears, Patent ductus arteriosus, Atrial septal defect, Cupped ear	OMIM:614846
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Hear...	ORPHA:508498
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Thyrocerebroretinal Syndrome	Goiter, Sensorineural hearing impairment, Thrombocytopenia	OMIM:274240
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Venous insufficiency...	ORPHA:568051
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Pulmonar...	ORPHA:81
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve	OMIM:619641
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
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dystrophic fingernails, Cutaneous photosensitivity, Dystrophic toenail, Fragile skin, Erythema, T...	ORPHA:158673
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Aortic root aneurysm, Patent foramen ovale, Microtia, Low-set ears, Mitral...	OMIM:245600
Thyrocerebrorenal Syndrome	Euthyroid goiter, Sensorineural hearing impairment, Thrombocytopenia	ORPHA:3327
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Diamond-Blackfan Anemia 11	Stenosis of the external auditory canal, Anemia of inadequate production, Atresia of the external...	OMIM:614900
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Low-set ears, Abnormal heart morphology, Bicuspid aortic valve, Atrial sept...	ORPHA:457279
Carpenter Syndrome	Polydactyly, Genu valgum, External genital hypoplasia, Finger syndactyly, Postaxial hand polydact...	ORPHA:65759
Bardet-Biedl Syndrome 16	Polydactyly, External genital hypoplasia, Bronchiolitis, Renal cyst, Obesity, Hypogonadism, Recur...	OMIM:615993
Systemic Sclerosis	Myocarditis, Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Vascular dilata...	ORPHA:90291
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Mullegama-Klein-Martinez Syndrome	Absent stapes, Sensorineural hearing impairment, Microtia, Low-set ears, Atresia of the external ...	OMIM:301022
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Disproportionate tall stature, Hi...	ORPHA:1900
Alg12-Cdg	Muscular ventricular septal defect, Patent ductus arteriosus, B lymphocytopenia, Patent foramen o...	ORPHA:79324
Poikiloderma With Neutropenia	Nail dystrophy, Low posterior hairline, Recurrent bronchopulmonary infections, Sparse lateral eye...	OMIM:604173
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Patent ductus arterios...	OMIM:618223
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Glossopharyngeal Neuralgia	Vascular dilatation, Abnormal glossopharyngeal nerve morphology, Bradycardia, Cranial nerve compr...	ORPHA:221098
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Genu valgum, Hepatomegaly, Bell-shaped thorax, Cone-shaped epiphyses of th...	OMIM:615630
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Abnormal vena cava morphology, Ventricular septal defect, Hearing impairmen...	ORPHA:163956
Digeorge Syndrome	Right aortic arch with mirror image branching, Ovarian cyst, Splenomegaly, Abnormal thymus morpho...	OMIM:188400
Reynolds Syndrome	Generalized abnormality of skin, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Telangiectasia of th...	ORPHA:779
Rhabdomyosarcoma, Embryonal, 2	Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter	OMIM:180295
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Death in childhood, Low-set ears, Cryptorchidism, Macrotia, Coarctation of a...	OMIM:600460
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Increased circulating gonadotropin level, Recurrent otitis media, Low-set, poste...	ORPHA:1772
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Derma...	ORPHA:100075
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Pulmonic stenosis, Hearing impairment, Posteriorly rotated ears, Paten...	OMIM:610759
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Conotruncal defect, Ventricular sept...	ORPHA:3097
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Thoracic Outlet Syndrome	Edema, Varicose veins, Abnormal rib morphology	ORPHA:97330
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, Low-set ears, Uplifted earlobe, Posteriorly rotated ear...	OMIM:620662
Maffucci Syndrome	Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad...	ORPHA:163634
Bangstad Syndrome	Goiter, Primary gonadal insufficiency, Pancytopenia, Insulin-resistant diabetes mellitus	OMIM:210740
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Pulmonic s...	OMIM:214800
Adiposis Dolorosa	Obesity, Sparse pubic hair, Telangiectasia of the skin, Sparse axillary hair, Bruising susceptibi...	ORPHA:36397
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Conjunctival telangiectasia, Recurrent si...	ORPHA:420741
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Multicystic kidney dysplasia, Urogenital sinus anomaly...	ORPHA:2970
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Koolen-De Vries Syndrome	Protruding ear, Hypothyroidism, Bicuspid aortic valve, Cryptorchidism, Overfolded helix, Abnormal...	ORPHA:96169
Kaposi Sarcoma	Venous insufficiency, Lymphedema, Abnormal lung morphology, Abnormality of the spleen, Weight los...	ORPHA:33276
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Cutaneous photosensitivity, Tiger tail bandin...	OMIM:601675
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male...	ORPHA:168563
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Stillbirth	OMIM:215045
Anonychia With Flexural Pigmentation	Macular telangiectasia, Alopecia of scalp, Abnormal hair morphology	ORPHA:69125
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Reduced ...	OMIM:301040
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Alg3-Cdg	Coarctation of the descending aortic arch, Abnormality of the endocrine system, Abnormal pinna mo...	ORPHA:79321
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Proximal muscle weakness in upper limbs, Polyhydramnios, Type 1 muscle...	ORPHA:169189
Mungan Syndrome	Pulmonic stenosis, Perimembranous ventricular septal defect	OMIM:611376
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Xeroderma Pigmentosum Variant	Telangiectasia, Cutaneous photosensitivity	ORPHA:90342
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Aortic root aneurysm, Low-set ears, Secundum atrial septal d...	OMIM:619910
Congenital Disorder Of Glycosylation, Type Iie	Perimembranous ventricular septal defect, Sensorineural hearing impairment, Low-set ears, Death i...	OMIM:608779
Ogden Syndrome	Left atrial enlargement, Cardiomegaly, Bicuspid aortic valve, Perimembranous ventricular septal d...	OMIM:300855
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Protruding ear, Aortic aneurysm, Sensorineural hearing impairment, Cryptorchidism, Hypothyroidism...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Protruding ear, Aortic aneurysm, Sensorineural hearing impairment, Cryptorchidism, Hypothyroidism...	ORPHA:352665
Wolcott-Rallison Syndrome	Neutropenia, Iron deficiency anemia, Lymphocytosis, Central hypothyroidism, Hypothyroidism, Doubl...	ORPHA:1667
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Valvular pulmonary stenosis, Lop ear, Patent foramen ovale, Low-set ears, Bicuspid aortic valve, ...	OMIM:300707
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Recurrent otitis media, Protruding ear, Ao...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Protruding ear, Ao...	ORPHA:363958
Pagod Syndrome	Optic atrophy, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Agonadism, Abnormal...	ORPHA:991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Thyroid hypoplasia, Decreased response to growth hor...	OMIM:619503
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Abnormal Eustachian tube morphology, Right aortic arch, Ventricular septa...	ORPHA:513456
Fetal Trimethadione Syndrome	Transposition of the great arteries, Abnormal helix morphology, Low-set ears, Tetralogy of Fallot...	ORPHA:1913
Congenital Aortic Valve Stenosis	Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph...	ORPHA:3093
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Cryptorchidism, Ventricular septal defect	OMIM:616559
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Dilated cardiomyopathy, Type II diabetes mellitus	ORPHA:401923
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Necrobiosis Lipoidica	Telangiectasia of the skin, Erythema, Fragile skin	ORPHA:542592
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Cholelithiasis, Patent ductus arteriosus	OMIM:614886
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h...	OMIM:275200
Rubinstein-Taybi Syndrome 1	Perimembranous ventricular septal defect, Accessory spleen, Patent foramen ovale, Ventricular sep...	OMIM:180849
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Muscular ventricular septal defect, Death in childhood, Patent foramen ovale, Microti...	OMIM:210710
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Supernumerary nipple, Highly arched eyebrow, Pectus excavatum, Shortening ...	ORPHA:247262
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Telangiectasia of...	ORPHA:220393
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Annular pancreas, Cutaneous photosensitivity, Alopecia...	OMIM:268400
Noonan Syndrome 8	Large for gestational age, Polyhydramnios, Abnormal sternum morphology, Pleural effusion, Hypertr...	OMIM:615355
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Genu valgum, Flared metaphysis, Delayed ep...	OMIM:616007
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Right atrial enlargement	ORPHA:555877
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Sensorineural hearing impairment, Ventricular septal defect, Pulmonic stenosis, Aortic valve sten...	ORPHA:353281
Mucolipidosis Type Ii	Cardiomyopathy, Splenomegaly, Left ventricular hypertrophy, Fine hair, Oligohydramnios, Telangiec...	ORPHA:576
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Inflammatory myopathy, Sinus tachycardia...	ORPHA:221
Rothmund-Thomson Syndrome Type 1	Abnormal ulnar metaphysis morphology, Calcinosis, Facial erythema, Patellar hypoplasia, Metaphyse...	ORPHA:221008
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Abnormal rib morphology, Decreased testicular size, Eunuchoid habitus, Obesi...	ORPHA:2234
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism, Muscular ventricular septal defect	OMIM:618569
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Dilatation of the cerebral artery, Protruding ear, Arterial tortuosity...	OMIM:609192
Distal Triplication 15Q	Hypoplastic aortic arch, Sensorineural hearing impairment, Microtia, Abnormal helix morphology, L...	ORPHA:314588
9Q33.3Q34.11 Microdeletion Syndrome	Patellar hypoplasia, Highly arched eyebrow, Bilateral coxa valga, Patellar aplasia, Abnormal hair...	ORPHA:495818
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Telangiectasia of the ...	ORPHA:679
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Hennekam-Beemer Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Hypotension, Failure to thrive, Camptodactyly of f...	ORPHA:2135
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Pectus excavatum, EMG: myopathic abnormalities, Cryptorchidism, Limb...	ORPHA:486815
Acrocardiofacial Syndrome	Truncus arteriosus, Ventricular septal defect, Low-set ears, Death in infancy, Coarctation of aor...	ORPHA:2008
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Hammertoe, Axonal degeneration, Abnor...	OMIM:601596
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal hair quantity, Abnormal testis morphology, Low posterior...	ORPHA:2233
8P23.1 Microdeletion Syndrome	Transposition of the great arteries, Atrioventricular canal defect, Abnormal pinna morphology, Ab...	ORPHA:251071
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Low-set ears	OMIM:619227
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Attached earlobe, Low-set ears, Posteriorly rotated ears, Ventricular se...	OMIM:616920
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Kyphoscoliotic Ehlers-Danlos Syndrome	Dextrocardia, Aortic aneurysm, Sensorineural hearing impairment, Low-set ears, Hearing impairment...	ORPHA:536545
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Neonatal insulin-dependent diabetes mellitus, Transposition of the...	ORPHA:2255
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Fontaine Progeroid Syndrome	Patent ductus arteriosus, Aortic aneurysm, Hypoplastic nipples, Low-set ears, Absent nipple, Deat...	OMIM:612289
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Congenital hypothyroidism...	ORPHA:226313
Cowden Syndrome 5	Thyroiditis, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, ...	OMIM:615108
Loeys-Dietz Syndrome 3	Dilatation of the cerebral artery, Arterial tortuosity, Patent ductus arteriosus, Aortic aneurysm...	OMIM:613795
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib...	OMIM:620519
Hereditary Acrokeratotic Poikiloderma	Nail dystrophy, Dystrophic fingernails, Abnormal hip bone morphology, Abnormal metacarpal morphol...	ORPHA:2907
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Tall stature, Optic nerve hypoplasia, Abnormal sternum morphology, Pec...	ORPHA:137634
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Cirrhosis, Hepatomegaly, Abn...	ORPHA:1775
Bardet-Biedl Syndrome 19	External genital hypoplasia, Y-shaped metacarpals, Postaxial polydactyly, Obesity, Hypogonadism, ...	OMIM:615996
Leptin Deficiency Or Dysfunction	Decreased testicular size, Obesity, Recurrent pneumonia, Hypogonadism, Recurrent upper respirator...	OMIM:614962
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Microphthalmia, Syndromic 2	Cupped ear, Dextrocardia, Hypoplastic aortic arch, Sensorineural hearing impairment, Ventricular ...	OMIM:300166
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Neutropenia in presence of...	ORPHA:525731
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Low-set, posteriorly rotated ears, Hypoplastic aortic arch, Abn...	ORPHA:261311
Fabry Disease	Optic atrophy, Congestive heart failure, Abnormal femur morphology, Emphysema, Angina pectoris, L...	ORPHA:324
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Synophrys, Recurrent u...	ORPHA:589905
Halperin-Birk Syndrome	Hearing impairment, Perimembranous ventricular septal defect, Death in childhood	OMIM:618651
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Cowden Syndrome 6	Thyroiditis, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, ...	OMIM:615109
Glutaric Aciduria Iii	Goiter, Hyperthyroidism	OMIM:231690
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Coxa val...	OMIM:201000
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Bicuspid aortic valve, Thickened helices, Patent fora...	OMIM:607872
Dextrocardia	Abnormal lung lobation, Pancreatic hypoplasia, Abnormal rib morphology, Congenital hip dislocatio...	ORPHA:1666
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Polyhydramnios, Truncal obesity	OMIM:240900
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Atrial septal defect, Hyperinsulinemia, Recurrent otitis media, Gastrointestinal...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Atrial septal defect, Hyperinsulinemia, Recurrent otitis media, Gastrointestinal...	ORPHA:99228
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Abnormal vena cava morphology, Promin...	ORPHA:97289
Monosomy X	Delayed puberty, Atrial septal defect, Hyperinsulinemia, Recurrent otitis media, Gastrointestinal...	ORPHA:99226
Turner Syndrome	Delayed puberty, Atrial septal defect, Hyperinsulinemia, Recurrent otitis media, Gastrointestinal...	ORPHA:881
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Facial telangiectasia, Contracture of the proximal interphalangeal joint of th...	OMIM:620141
Laurence-Moon Syndrome	Hypoplasia of penis, Finger syndactyly, Hand polydactyly, Obesity, Congenital hepatic fibrosis, D...	ORPHA:2377
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Low-set ears, Hearing impairment, Coarctation of aorta, Tetralogy of F...	OMIM:617159
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Frontometaphyseal Dysplasia 2	Delayed puberty, Sensorineural hearing impairment, Patent foramen ovale, Abnormal pinna morpholog...	OMIM:617137
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Obesity, Hypogonadism, Clinodactyly	OMIM:615984
Incontinentia Pigmenti	Congestive heart failure, Spina bifida occulta, Abnormal hair morphology, Finger syndactyly, Dyst...	ORPHA:464
Campomelia, Cumming Type	Hydrops fetalis, Hepatomegaly, Multicystic kidney dysplasia, Prematurely aged appearance, Lymphed...	ORPHA:1318
Bloom Syndrome	Facial erythema, Clinodactyly of the 5th finger, Cutaneous photosensitivity, Azoospermia, Facial ...	OMIM:210900
Fryns Syndrome	Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, Abnormal aortic morphology, T...	ORPHA:2059
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Abnormal venous morphology, Varicose veins, Peda...	ORPHA:79452
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palpebral edema, Predominantly lower limb lymphedema, Abnormal sweat gland morphology, Absent eye...	OMIM:607823
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Transposition of the great arteries, Hypoplastic nipples, Overfolded helix, Pulmonary artery sten...	OMIM:280000
Thymic Carcinoma	Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Neoplasm of the thym...	ORPHA:99868
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism	OMIM:188580
Bloom Syndrome	Recurrent tonsillitis, Cutaneous photosensitivity, Azoospermia, Bronchitis, Oligozoospermia, Patc...	ORPHA:125
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cryptorchidism, Bifid scrotum, Telangiectasia of the skin, Hypoplasia of penis	ORPHA:85321
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Nail dystrophy, Short ribs, Short metacar...	OMIM:305600
Cowden Syndrome 1	Thyroiditis, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, ...	OMIM:158350
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Abnormal radi...	ORPHA:226316
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Anomal...	OMIM:616462
Lethal Congenital Contracture Syndrome 10	Adducted thumb, Hydrops fetalis, Torticollis, Narrow chest, Short long bone, Femoral bowing, Hypo...	OMIM:617022
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Splenomegaly, Diabetes insipidus, Patent foramen ovale, Primum a...	OMIM:619534
Xeroderma Pigmentosum	Optic atrophy, Cutaneous photosensitivity, Alopecia, Conjunctival telangiectasia, Failure to thri...	ORPHA:910
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve, Posteriorly rotated ears, Low-set ears	OMIM:618529
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement...	OMIM:619472
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Reduced circulating growth hormone concentration, Pulmonic stenosis, Multiple muscular ventricula...	OMIM:615508
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema...	OMIM:616843
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Coenzyme Q10 Deficiency, Primary, 2	Optic atrophy, Aortic regurgitation, Pulmonary arterial hypertension, Obesity, Overweight, Mitral...	OMIM:614651
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Arteriovenous malformation, Neop...	ORPHA:2929
Gaucher Disease, Type Ii	Anemia, Death in infancy, Double aortic arch, Thrombocytopenia, Splenomegaly	OMIM:230900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Nephrotic syndrome, Ne...	OMIM:146255
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Abnormal cranial nerve morphology, Intracranial...	ORPHA:624
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Sensorineural hearing impairment, Patent foramen ovale, Ve...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Sensorineural hearing impairment, Patent foramen ovale, Ve...	ORPHA:353277
Branchiootorenal Syndrome 1	Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas...	OMIM:113650
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Pectus excavatum, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower lim...	ORPHA:98855
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Low-set ears, Hypertrophic cardiomyopathy, Death in infancy, Left ventricul...	OMIM:220111
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Failure to thrive, Facial telangiectasia, Flexion contracture	OMIM:615851
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, P...	OMIM:618280
Marfan Syndrome	Tricuspid valve prolapse, Mitral annular calcification, Aortic root aneurysm, Ascending tubular a...	OMIM:154700
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Mccune-Albright Syndrome	Increased serum testosterone level, Pancytopenia, Abnormal testis morphology, Precocious puberty,...	ORPHA:562
Williams Syndrome	Abnormal carotid artery morphology, Chronic otitis media, Sensorineural hearing impairment, Pulmo...	ORPHA:904
Meige Disease	Facial edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleu...	ORPHA:90186
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
De Barsy Syndrome	Hypoplastic aortic arch, Prominent veins on trunk, Ventricular septal defect, Low-set ears, Bilat...	ORPHA:2962
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Low-set ears, Aortic valve stenosis, Macrotia, Hepatosplenomega...	OMIM:613563
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Small epiphyses, Short thorax, Short long bone, Obesity, Hip contracture, Thoracic h...	OMIM:618363
Ataxia-Telangiectasia-Like Disorder 1	Distal amyotrophy, Telangiectasia	OMIM:604391
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect, L...	OMIM:617506
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Proteus Syndrome	Lymphangioma, Venous malformation, Splenomegaly	OMIM:176920
De Sanctis-Cacchione Syndrome	Optic atrophy, Cutaneous photosensitivity, Axonal degeneration, Bilateral coxa valga, Bilateral c...	OMIM:278800
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, External genital hypoplasia, Hypopigmentation of hair, Obes...	ORPHA:177910
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Venous insufficiency, Warfarin-induced skin necrosis, Abnormal cerebral vascular morphol...	ORPHA:745
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Lon...	OMIM:210720
Cutis Marmorata Telangiectatica Congenita	Hypertension, Short lower limbs, Cutis marmorata, Bowing of the legs, Telangiectasia	OMIM:219250
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Sens...	OMIM:203800
Obesity Due To Prohormone Convertase I Deficiency	Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Red hair,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Red hair,...	ORPHA:71526
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo...	ORPHA:99819
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating thyroid-stimulating hormo...	ORPHA:424
Kleefstra Syndrome Due To 9Q34 Microdeletion	Conotruncal defect, Abnormal testis morphology, Aortic valve stenosis, Hearing impairment, Coarct...	ORPHA:96147
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Emery-Dreifuss Muscular Dystrophy	Pectus excavatum, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower lim...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Pectus excavatum, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower lim...	ORPHA:98853
Temple Syndrome	Short foot, Cryptorchidism, Decreased testicular size, Precocious puberty, Obesity, Flexion contr...	OMIM:616222
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Hypoplasia of penis, Pectus carinat...	ORPHA:3068
Bardet-Biedl Syndrome 22	Polydactyly, Large for gestational age, Obesity, Hypogonadism, Postaxial foot polydactyly	OMIM:617119
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole...	ORPHA:209902
Medullary Thyroid Carcinoma	Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin c...	ORPHA:1332
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t...	ORPHA:370010
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Large for gestational age, Abnormal QRS complex, Hydrops fe...	ORPHA:45452
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Aortic root aneurysm,...	ORPHA:404443
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Cutaneous telangiectasia, Cutaneous photosensitivity, Conjunctiv...	OMIM:615919
Martin-Probst Syndrome	Hypoplastic nipples, Bifid scrotum, Chordee, Cryptorchidism, Micropenis, Telangiectasia	OMIM:300519
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large for gestational age, Polyhydramnios, Overgrowth, Diastasis recti, Coat hanger sign of ribs,...	ORPHA:254534
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Arteriovenous malformation, Excessive wrinkled skin, Ovarian neoplasm, ...	ORPHA:137608
X-Linked Emery-Dreifuss Muscular Dystrophy	Pectus excavatum, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower lim...	ORPHA:98863
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Anemia, Abnormality of the endocrine system, Patent foramen ovale, Anomalou...	ORPHA:438213
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Venous insufficiency, Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Pu...	ORPHA:743
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Vertigo, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyro...	ORPHA:91347
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, H...	ORPHA:3109
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
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
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal aortic arch morphology, Small earlobe, Splenomegaly, Tricuspid atr...	ORPHA:567
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Sensorineural hearing impairment, Patent foramen ovale, Cryptorchidism, Coarctation of aorta, Tet...	OMIM:618748
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Hypopl...	ORPHA:3409
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Dilation of Virchow-Robin spaces, Overgrowth, Obesity, S...	OMIM:605309
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Hypospadias, Spina bifida occulta, Finger syndactyly, Short thor...	ORPHA:2311
Craniofacioskeletal Syndrome	Interrupted aortic arch, Microtia, Ventricular septal defect, Posteriorly rotated ears, Patent du...	OMIM:300712
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Protruding ear, Aortic aneurysm, Bilateral sensorineural hearing impairment, Hea...	OMIM:619475
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Short metatarsal, Hypospadias, Short metacarpal, Short phalanx of finger, Obesity, Brac...	OMIM:614613
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cognitive impairment	OMIM:615300
Fumarase Deficiency	Polycythemia, Perimembranous ventricular septal defect	OMIM:606812
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop...	ORPHA:90674
Biemond Syndrome Type 2	Preaxial polydactyly, Hypospadias, Obesity, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301035
Obesity And Hypopigmentation	Red hair, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Low-set ears, Macrotia, Cryptorchidism	OMIM:616789
Scleroderma, Familial Progressive	Calcinosis, Telangiectasia	OMIM:181750
Acute Radiation Syndrome	Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Hypoplasia of penis, Pectus carinatum, Abnormal finger mo...	ORPHA:3138
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Pul...	ORPHA:2519
Hunter-Macdonald Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Mitral valve prolapse, Patent du...	OMIM:611962
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Recurrent otitis media, Sens...	OMIM:194050
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive...	OMIM:610655
Carney Complex, Type 1	Thyroid carcinoma, Pheochromocytoma, Cardiac myxoma, Pituitary adenoma, Elevated circulating grow...	OMIM:160980
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Calcinosis, Metaphyseal striations, Aplasia/Hypoplasia of the patella, Sp...	ORPHA:2909
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Accessory spleen, Interrupted aortic arch, Low-set ears, Tri...	OMIM:164280
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Fi...	ORPHA:1001
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Holt-Oram Syndrome	Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal...	OMIM:142900
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Microtia, Bilateral sensorineural hearing impairment, Hypoplasia o...	ORPHA:40366
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Attention deficit hyperactivity disorder, H...	OMIM:617914
Frank-Ter Haar Syndrome	Protruding ear, Patent foramen ovale, Low-set ears, Secundum atrial septal defect, Mitral valve p...	OMIM:249420
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Hypertension, Pulmonic stenosis, P...	ORPHA:97685
Alagille Syndrome 2	Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot	OMIM:610205
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,...	ORPHA:96334
Craniofacial Microsomia 1	Unilateral external ear deformity, Sensorineural hearing impairment, Right aortic arch, Microtia,...	OMIM:164210
Dysbetalipoproteinemia	Tendon xanthomatosis, Hepatomegaly, Type IV atherosclerotic lesion, Premature coronary artery ath...	ORPHA:412
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Abnormal vagina morphology, Hirsutism,...	ORPHA:247768
Recombinant 8 Syndrome	Chronic otitis media, Abnormality of the outer ear, Ventricular septal defect, Low-set ears, Pulm...	ORPHA:96167
Holoprosencephaly 14	Aortic valve atresia, Low-set ears, Macrotia, Double outlet right ventricle, Ventricular septal d...	OMIM:619895
Ramon Syndrome	Enlarged labia minora, Decreased body weight, Optic disc pallor, Angiokeratoma, Hypertrichosis, T...	OMIM:266270
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Nail dystrophy, 2-3 toe syndactyly, Increased body weight, Hirsutism, Low posterior hairline, Syn...	OMIM:300860
Senior-Loken Syndrome 9	Polydactyly, Cholestasis, Hypoplasia of the femoral head, Obesity, Hypogonadism, Hepatic fibrosis...	OMIM:616629
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Interrupted aortic arch, Microtia, Ventricular septal defect, Thrombocytopenia, Posterior...	ORPHA:163979
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal rib morphology, Abnormal mesentery morphology, Abnormality of the spleen, Abno...	ORPHA:93941
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Polyhydramnios, Clinodactyly of the 5th finger, Tapered toe, Dilation ...	ORPHA:544488
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedem...	ORPHA:79280
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Sensorineural hearing impairment, High-frequency hearing impairment, Aortic valv...	OMIM:176690
Peripartum Cardiomyopathy	Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertrophy, Myocarditis, Elevate...	ORPHA:563
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Microtia, Low-set ears, Hearing impairment, Patent ductus arteriosus, Doubl...	OMIM:301043
Parkes Weber Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila...	ORPHA:90307
Congenital Myopathy 9A	Obesity, Cryptorchidism, Oligohydramnios, EMG: myopathic abnormalities	OMIM:618822
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Autosomal Dominant Progressive External Ophthalmoplegia	Hypothyroidism, Hearing impairment, Hyperthyroidism, Left ventricular hypertrophy, Goiter, Dilate...	ORPHA:254892
Gaucher Disease, Type Iiic	Calcification of the aorta, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomega...	OMIM:231005
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla...	OMIM:218700
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Increased body weight, Congenital hip dislocation, Increased body mass index	OMIM:614450
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly, Failure to thrive, Obesity, Hip dysplasia, Recurr...	ORPHA:412035
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce...	ORPHA:99832
Kawasaki Disease	Myocarditis, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Vasculitis, Leuko...	ORPHA:2331
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Hypoplasia of the uterus	OMIM:619151
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ...	ORPHA:652
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Abnormal lung lobation, Polyhydramnios, Aplasia/Hypoplasia involving the pelvis, A...	ORPHA:3301
Bardet-Biedl Syndrome 3	External genital hypoplasia, Tricuspid regurgitation, Postaxial polydactyly, Obesity, Brachydactyly	OMIM:600151
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ...	ORPHA:69663
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Sensorineural hearing impairment, Patent ductus arteriosus, Cryptorchidi...	ORPHA:250989
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Renal cyst, Postaxial polydactyly, Obesity, Syndactyly,...	OMIM:605231
Cowden Syndrome	Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Pectus excavatum, Failu...	ORPHA:201
Trichorhinophalangeal Syndrome, Type Ii	Protruding ear, Recurrent otitis media, Internal carotid artery dissection, Low-set ears, Bilater...	OMIM:150230
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Cervical insufficiency, Pectus excavatum, Descending aortic dissection, ...	OMIM:130050
Vacterl/Vater Association	Congenital diaphragmatic hernia, Polyhydramnios, Abnormality of the gallbladder, Hypospadias, Hyp...	ORPHA:887
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Neonatal death,...	OMIM:314390
48,Xxxy Syndrome	Tall stature, Clinodactyly of the 5th finger, Small scrotum, Hypoplasia of penis, Azoospermia, Cr...	ORPHA:96263
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Prader-Willi Syndrome	Radial deviation of finger, Syndactyly, Edema, Small scrotum, Oligohydramnios, Clinodactyly, Decr...	OMIM:176270
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Porta...	ORPHA:264580
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Bilateral sensorineural hearing impairment, Thyroid hypoplasia, Vertebrobasilar dolichoectasia, C...	ORPHA:521445
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Abnormal jugular vein morphology, Reduced left vent...	ORPHA:1677
Abdominal Obesity-Metabolic Syndrome 4	Coronary artery atherosclerosis, Hypertension, Accelerated atherosclerosis, Obesity, Myocardial i...	OMIM:618620
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Perimembranous ventricular septal defect, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasi...	ORPHA:83617
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Skeletal muscle hypertrophy, Tibial bowing, Forearm u...	ORPHA:314795
Chops Syndrome	Optic atrophy, Thick hair, Aspiration pneumonia, Curly hair, Long eyelashes, Synophrys, Obesity, ...	OMIM:616368
Polycystic Ovary Syndrome 1	Obesity, Hirsutism, Enlarged polycystic ovaries	OMIM:184700
Pituitary Adenoma 4, Acth-Secreting	Purpura, Facial erythema, Hirsutism, Hypertension, Obesity, Pituitary adenoma, Ecchymosis, Bruisi...	OMIM:219090
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Small scrotum, External genital hypoplasia, Premature pubarc...	ORPHA:398079
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure...	OMIM:154230
Diamond-Blackfan Anemia 7	Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Hearing impairment,...	OMIM:612562
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Premature graying of hair, Gastrointestinal hemorrhage, Retinal telangiectasia, Portal hypertensi...	OMIM:617341
Bardet-Biedl Syndrome 1	Radial deviation of finger, Hypertension, Biliary tract abnormality, Syndactyly, Hypogonadism, Le...	OMIM:209900
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Chalazion, Hearing impairment, Secundum atrial septal defect, Posteriorly rotated ears, Patent du...	OMIM:613355
Toriello-Carey Syndrome	Abnormal pinna morphology, Cardiomyopathy, Low-set ears, Pulmonic stenosis, Hearing impairment, C...	ORPHA:3338
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus, Vesicoureteral ref...	ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal telangiectasia, Highly arched eyebrow, Optic nerve hypoplasia, Overgrowth, Failure to thrive	OMIM:620157
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent respiratory infections, Pec...	OMIM:612541
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Hypertension, Hirsutism, Fragile skin, Adrenal hyperplasia, Dorsocervical ...	OMIM:615830
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Cryptorchidism, Low-set ears, Atrial septal dilatation	OMIM:278250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Optic atrophy, Premature graying of hair, Nail dystrophy, Genu valgum, Retinal telangiectasia, Me...	OMIM:612199
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Xeroderma Pigmentosum, Complementation Group E	Telangiectasia, Cutaneous photosensitivity	OMIM:278740
Noonan Syndrome 4	Large for gestational age, High anterior hairline, Pectus excavatum of inferior sternum, Polyhydr...	OMIM:610733
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Hypogonadism, Small scrotum, External genital hypop...	ORPHA:398069
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Petechiae, Deviation of fin...	ORPHA:903
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c...	OMIM:618395
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight, Pancreatic islet-cell hyperplasia	ORPHA:276608
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Cutaneous photosensitivity, Telangiectasia	OMIM:278730
Tarp Syndrome	Optic atrophy, Rocker bottom foot, Finger syndactyly, Pectus excavatum, Cryptorchidism, Postaxial...	ORPHA:2886
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Macronodular adrenal hyperplasia, Increased body weight, Hirsutism, Hypertension, Primary hyperpa...	ORPHA:189427
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Syncope, Renal artery stenosis, Abnormal autonomic nervous ...	ORPHA:71273
Menkes Disease	Abnormal metaphysis morphology, Abnormal carotid artery morphology, Spontaneous hematomas, Tarsal...	ORPHA:565
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno...	ORPHA:2396
Multiple Endocrine Neoplasia, Type Iia	Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para...	OMIM:171400
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Hypertension, Aortic valve s...	OMIM:139210
Xeroderma Pigmentosum, Complementation Group C	Telangiectasia, Cutaneous photosensitivity	OMIM:278720
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Abnormal cardiac septum morphology, Adrenal hypoplasia, Thyroid hypoplasia, Hearing i...	OMIM:308050
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Obesity, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:610628
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Hypertension, Pulmonary carcinoid tumor, Adrenal hyperpl...	ORPHA:99889
X-Linked Intellectual Disability, Cabezas Type	Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Cachexia, Synophrys, Decreased t...	ORPHA:85293
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th...	ORPHA:95712
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Prominent fingertip pads, Bifid scrotum, Thoraci...	OMIM:229850
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Sensorineural hearing impairment, Pulmonary artery sling, Abnormality of ...	ORPHA:261537
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Abnormal earlobe morphology, Pulm...	ORPHA:141127
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Polyhydramnios, Interrupted aortic ar...	OMIM:267000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Polyhydramnios, Hepatomegaly, Narrow chest, Short clavicles, Short long bone, S...	OMIM:617088
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent n...	OMIM:620186
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Epidermodysplasia Verruciformis	Telangiectasia of the skin	ORPHA:302
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Xeroderma Pigmentosum, Complementation Group A	Cutaneous photosensitivity, Telangiectasia	OMIM:278700
Mowat-Wilson Syndrome	Recurrent otitis media, Abnormal cardiac septum morphology, Sensorineural hearing impairment, Asp...	ORPHA:2152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect	OMIM:271640
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Sensorineural hearing impairment, Ventricular septal defect, Pulmonary ar...	ORPHA:261552
Meckel Syndrome 12	Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia	OMIM:616258
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Cholestasis, Aplasia/hypoplas...	ORPHA:198
Tick-Borne Encephalitis	Abnormal glossopharyngeal nerve morphology, Elevated circulating hepatic transaminase concentrati...	ORPHA:297
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, Short long bone, Broad thumb, Abnormal eyebrow morphology, Hip disloca...	ORPHA:1106
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Prolonged QT int...	ORPHA:26793
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Xeroderma Pigmentosum, Variant Type	Cutaneous telangiectasia, Cutaneous photosensitivity	OMIM:278750
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Asymmetry of the thorax,...	ORPHA:2911
Proteus Syndrome	Macrodactyly, Bronchogenic cyst, Arteriovenous malformation, Asymmetry of the thorax, Cachexia, A...	ORPHA:744
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Dementia, Small scrotum, Cryptorchidism, Hypoplasia of t...	OMIM:119500
Ververi-Brady Syndrome	Macrotia, Transposition of the great arteries, Low-set ears, Cupped ear	OMIM:617982
Cowden Syndrome 7	Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis	OMIM:616858
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourth metatars...	OMIM:615994
Proteus-Like Syndrome	Bronchogenic cyst, Venous insufficiency, Splenomegaly, Thymus hyperplasia, Subcutaneous lipoma, P...	ORPHA:2969
Cushing Disease	Increased body weight, Hypertension, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, H...	ORPHA:96253
Aromatase Deficiency	Tall stature, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enlarge...	ORPHA:91
Pallister-Hall Syndrome	Microtia, Thyroid hypoplasia, Central adrenal insufficiency, Low-set, posteriorly rotated ears, A...	ORPHA:672
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Varicose veins, Lymphedema, Venous malformation	OMIM:613089
Bilateral Polymicrogyria	Facial diplegia, Abnormal glossopharyngeal nerve morphology, Abnormality of masticatory muscle, A...	ORPHA:268940
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Hepatomegaly, Lymphadenopathy, Optic nerve compression, Narrow ch...	ORPHA:667
Alkaptonuria	Aortic aneurysm, Mitral valve calcification, Dark cerumen, Aortic valve calcification, Coronary a...	OMIM:203500
Alkaptonuria	Hearing abnormality, Aortic aneurysm, Black pigment gallstones, Abnormal heart valve morphology, ...	ORPHA:56
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Protruding ear, Low-set ears	OMIM:218330
Isotretinoin Embryopathy-Like Syndrome	Microtia, Conotruncal defect, Anotia	OMIM:243440
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub...	ORPHA:98754
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Spider hemangioma, Hepatocellular carcinoma, Hypertension, Pu...	OMIM:232240
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Tall stature, Short greater sciati...	OMIM:312870
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Sparse axillary hair, Absent radius, Aplasia of the...	OMIM:181450
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Increased body weight, Synophrys, Short palm, Brachydactyly	OMIM:182290
Carney Complex	Ductal carcinoma in situ, Tall stature, Neoplasm of the pancreas, Increased body weight, Hyperten...	ORPHA:1359
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonadotropic hypogonadism, Decreased test...	ORPHA:66628
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon...	ORPHA:432
Rabin-Pappas Syndrome	Retinal telangiectasia, Highly arched eyebrow, Optic nerve hypoplasia, Overgrowth, Obesity, Failu...	OMIM:620155
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Calcification of the aorta, Abnormal pulmonary interstitial morphology, Cholelithiasis, Azoosperm...	ORPHA:2072
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Pectus excavatum, Low posterior hairline, Recurrent sinusitis, Overlapping...	OMIM:213980
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub...	ORPHA:98793
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Leukonychia, Telangiectases of the cheeks, Fragile skin	OMIM:616295
Diamond-Blackfan Anemia 21	Genu valgum, Aortic regurgitation, Sandal gap, Clinodactyly of the thumb, Synophrys, Horizontal e...	OMIM:620072
Insulinoma	Neuroendocrine neoplasm, Increased body weight, Primary hyperparathyroidism, Pituitary prolactin ...	ORPHA:97279
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub...	ORPHA:177904
Hellp Syndrome	Pulmonary edema, Elevated circulating hepatic transaminase concentration, Increased body weight, ...	ORPHA:244242
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, External genital hypoplasia, Premature pub...	ORPHA:177901
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonadotropic hypogonadism, Decreased test...	ORPHA:179494
Charge Syndrome	Delayed puberty, Abnormality of the adrenal glands, Abnormal aortic valve morphology, Low-set, po...	ORPHA:138
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Sensorineural hearing impairment, Patent foramen ovale, Hypertrophic car...	ORPHA:17
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Microtia, Thyroid hypoplasia, Hypoplasia of the thymus, Abnorm...	ORPHA:861
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Hypoplastic aortic arch, Truncus arteriosus, Dysplastic aortic val...	ORPHA:508488
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora...	OMIM:620076
Familial Adenomatous Polyposis	Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hypothyroidism, Pituitar...	ORPHA:733
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Dilated cardiomyopathy	OMIM:300952
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Small scrotum, Short distal phalanx of finger, Increased density of long bones, Br...	OMIM:269150
Thakker-Donnai Syndrome	Transposition of the great arteries, Macrotia, Tetralogy of Fallot, Posteriorly rotated ears, Ven...	ORPHA:1780
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of the hyp...	ORPHA:2166
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Venous malformation, Sandal gap, Overgrowth, Splenomegaly	OMIM:612918
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Obesity, Edema, Low pulse pressure, Facial edema, O...	ORPHA:86816
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	ORPHA:263455
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular...	OMIM:162300
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Retinal neovascularization, Lymphedema, Abnormal optic disc morphology, V...	ORPHA:891
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:613471
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Camptodactyly, Flex...	ORPHA:88628
Kagami-Ogata Syndrome	Large for gestational age, Polyhydramnios, Bell-shaped thorax, Overgrowth, Diastasis recti, Front...	ORPHA:254519
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ...	OMIM:614527
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Coffin-Lowry Syndrome	Coarse hair, Bifid sternum, Highly arched eyebrow, Hyperextensibility of the finger joints, Narro...	OMIM:303600
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, 2-3 toe syndactyly, Postax...	OMIM:619471
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Supernumerary nipple, Cutaneous photosensitivity, Highly arched eyebrow, 2-3 toe...	OMIM:618653
Kindler Syndrome	Phimosis, Telangiectasia of the skin, Fragile skin, Cutaneous photosensitivity	OMIM:173650
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hearing impairment, Atresia of the external auditory canal, Tetralogy of Fallot, Abnormality of t...	ORPHA:3186
Kleefstra Syndrome 1	Hearing impairment, Abnormal pinna morphology, Cryptorchidism, Conotruncal defect	OMIM:610253
Gaisböck Syndrome	Elevated diastolic blood pressure, Coronary artery atherosclerosis, Angina pectoris, Stroke, Hype...	ORPHA:90041
Pruritic Urticarial Papules And Plaques Of Pregnancy	Palmoplantar erythema, Increased body weight, Facial erythema	ORPHA:64745
Familial Multinodular Goiter	Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm	ORPHA:276399
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Doors Syndrome	Low-set ears, Congenital hypothyroidism, Adrenal hyperplasia, Atresia of the external auditory ca...	ORPHA:79500
Carpenter Syndrome 2	Highly arched eyebrow, Pectus carinatum, Pectus excavatum, Broad thumb, Transposition of the grea...	OMIM:614976
Bardet-Biedl Syndrome 12	Polydactyly, Hydrometrocolpos, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, V...	OMIM:615989
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Tall stature, Overgrowth, Renal cyst, Long hallux, Varicose veins, Mac...	OMIM:617107
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight, Hypertension	OMIM:615954
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Bicornuate uterus, Nephrolithiasis, Renal cyst, Glycosuri...	OMIM:137920
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell hyperplasia, Pri...	ORPHA:653
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Short ribs, Short metacarpal, Abnormal forearm bone morphology, Short humer...	ORPHA:3404
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Attention deficit hyperactivi...	OMIM:614083
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia	OMIM:619879
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect...	OMIM:253800
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Mody	Large for gestational age, Hepatocellular adenoma, Pancreatic hypoplasia, Renal cyst, Obesity, Ex...	ORPHA:552
Adrenocortical Carcinoma	Hypertension, Increased body weight, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma,...	ORPHA:1501
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Multinodular goiter	OMIM:620189
Glomuvenous Malformation	Generalized abnormality of skin, Arteriovenous malformation, Gastrointestinal arteriovenous malfo...	ORPHA:83454
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Hearing impairment,...	ORPHA:3474
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Abnormal thumb morphology, Spina bifida occulta, Tibial bowing, Abnorm...	ORPHA:500095
Kanzaki Disease	Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Axonal degeneration, Petechia...	OMIM:609242
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Increased body weight, Decreased body weight, Abnormality of ...	ORPHA:2298
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t...	ORPHA:3464
Blue Diaper Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:94086
Estrogen Resistance Syndrome	Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Venous malformation, Arteriovenous fistula, Distal lower limb ...	ORPHA:79093
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor...	ORPHA:79078
Tetrasomy 9P	Glue ear, Dextrocardia, Juxtaductal coarctation of the aorta, Abnormal earlobe morphology, Patent...	ORPHA:3310
Stüve-Wiedemann Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:3206
Craniorachischisis	Congenital diaphragmatic hernia, Bifid sternum	ORPHA:63260
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Tall stature, Polyhydramnios, Hepatom...	ORPHA:116
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect,...	OMIM:256520
Restrictive Dermopathy	Transposition of the great arteries, Dextrocardia, Congenital adrenal hypoplasia, Ascending tubul...	ORPHA:1662
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Microphthalmia, Syndromic 1	Recurrent otitis media, Abnormal pinna morphology, Low-set ears, Hearing impairment, Bicuspid aor...	OMIM:309800
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus	OMIM:309801
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Patent ductus arteriosus	OMIM:313850
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the uterus, Aortic valve stenosis, Sparse hair, Small...	OMIM:601803
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Venous insufficiency, Aortic root aneurysm, Acrocyanosis, As...	ORPHA:285
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Hypoplasia of the uterus, Hyp...	OMIM:618419
Familial Cerebral Cavernous Malformation	Neuroma, Cerebral hemorrhage, Venous malformation, Vascular skin abnormality	ORPHA:221061
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Ureteral duplication, Horseshoe kidney, Vesicoureteral reflux	OMIM:274000
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Hypertens...	ORPHA:64
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Coats Disease	Retinal telangiectasia	OMIM:300216
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Renal hypo...	OMIM:135900
Hydrolethalus Syndrome 1	Bifid uterus, Hypospadias, Hydronephrosis, Abnormal vagina morphology	OMIM:236680
Okamoto Syndrome	Urinary incontinence, Ureteropelvic junction obstruction, Bifid uterus, Hydronephrosis, Unilatera...	ORPHA:2729
Vater/Vacterl Association	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu...	OMIM:192350
Wolf-Hirschhorn Syndrome	Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias	OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism	OMIM:276820
Norrie Disease	Delayed puberty, Venous insufficiency, Sensorineural hearing impairment, Abnormal helix morpholog...	ORPHA:649
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	ORPHA:572333
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Peters Plus Syndrome	Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Clitoral hypoplasia, Hydronephro...	ORPHA:709
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, Hydronephrosis, Hypopla...	OMIM:261540

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 Tulp4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tulp4.

No publications found that use IMPC mice or data for Tulp4.

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MGI Allele	Allele Type	Produced
Tulp4^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tulp4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tulp4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tulp4 MGI:1916092

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Tulp4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data