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Gene: H13 MGI:95886

Gene Summary

Name:

histocompatibility 13

Synonyms:

H-13, 1200006O09Rik, Hm13, Spp, 5031424B04Rik, 4930443L17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal snout morphology	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	7.53×10^-05
decreased fasting circulating glucose level	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	1.57×10^-06
increased bone mineral content	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	7.93×10^-06
preweaning lethality, complete penetrance	H13^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00

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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 Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Anti-nuclear antibody assay

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

24 Images

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Legacy Phenotype Associated Images

H13^{tm1b(KOMP)Wtsi}
HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
HET, Male, WTSI

H13^{tm1b(KOMP)Wtsi}
HET, Female, WTSI

View all 150 images

H13^{tm1b(KOMP)Wtsi}
abnormal coat/hair pigmentation, WT, Male, WTSI

H13^{tm1b(KOMP)Wtsi}
asymmetric snout, abnormal snout morphology, head, HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
abnormal coat/hair pigmentation, WT, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
abnormal snout morphology, upturned snout, head, HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
abnormal snout morphology, head, HET, Male, WTSI

View all 14 images

H13^{tm1b(KOMP)Wtsi}
HET, Male, WTSI

H13^{tm1b(KOMP)Wtsi}
anterior commissure, decreased anterior commissure size, HET, Male, WTSI

H13^{tm1b(KOMP)Wtsi}
WT, Male, WTSI

View all 7 images

H13^{tm1b(KOMP)Wtsi}
cataracts, HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
fused cornea and lens, HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
cataracts, HET, Female, WTSI

H13^{tm1b(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

H13^{tm1b(KOMP)Wtsi}
abnormal cornea morphology, HET, Female, WTSI

Human diseases caused by H13 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 H13 (0 diseases)
Human diseases predicted to be associated with H13 (960 diseases)

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

The table below shows human diseases predicted to be associated to H13 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diabetic Embryopathy	Ureteral duplication, Vertebral segmentation defect, Aplasia/Hypoplasia of the cerebellum, Microp...	ORPHA:1926
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, High palate, Conductive hearing im...	OMIM:201000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Bicuspid aortic valve, Short neck, Coloboma, Abnormal optic disc morphology, ...	ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Posteriorly rotated ears, Sandal gap, Pectus excavatum, Synophrys, Short toe, P...	OMIM:617877
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Parachute mitral valve, Synophrys, Chiari type I malformation, Gastroesophageal ...	OMIM:618316
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hemivertebrae, Colobom...	OMIM:220210
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Edema, Short neck, Cryptorchidism, Patent ductus arterios...	OMIM:608104
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Polyhydramnios, Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Agenesis...	OMIM:301056
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion contr...	OMIM:180849
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Short neck, Bicuspid pulmonary valve, Abnormal pulmonary ve...	ORPHA:709
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Posteriorly rotated ears, Pectus excavatum, Cryptorchidism, Patent duc...	OMIM:179613
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Proximal placement of thumb, Isomerism, Urethral atresia, Neonatal death, Atriove...	OMIM:314390
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Enlarged thorax, High p...	ORPHA:251071
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal a...	ORPHA:244
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Urina...	ORPHA:268882
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Synophrys, High palate, Transposition of the great arteri...	ORPHA:1913
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transpositio...	OMIM:231060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Retinal detachment, Spinal rigidity, Hydrocephalus, Flexi...	OMIM:253800
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty...	ORPHA:261243
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Flexion contra...	OMIM:210710
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Cryptorchidism, Macroglossia, Coloboma, Transposition of the great arteries, Low-set ...	OMIM:616789
Alg12-Cdg	Polyhydramnios, Edema, Proximal placement of thumb, Abnormal peripheral nervous system morphology...	ORPHA:79324
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Cleft palate, Anterior creases of earlobe, Hydronep...	ORPHA:1727
Sotos Syndrome	High, narrow palate, Partial agenesis of the corpus callosum, High palate, Gastroesophageal reflu...	OMIM:117550
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, L...	OMIM:601808
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Gastroesophageal reflux, Atrial septal defect, Achalasia, Laterall...	OMIM:600987
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung loba...	OMIM:312870
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Abnormal lung lobatio...	ORPHA:672
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinat...	OMIM:619910
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig...	OMIM:618845
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper limbs, Abnorm...	ORPHA:371428
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Chorioretinal coloboma, Conductive hearing impairment, Sparse hair, Clinodactyl...	OMIM:280000
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Cerebellar vermis hypoplasia, Sparse eyelashes, Urinary incontinence, P...	OMIM:620070
Chromosome 9P Deletion Syndrome	Short neck, High, narrow palate, High palate, Atrial septal defect, Micropenis, Long toe, Hypospa...	OMIM:158170
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Ventr...	ORPHA:860
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Short neck, High, narrow palate, Hemivertebrae, Abnormal...	ORPHA:7
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Charge Syndrome	Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the ...	ORPHA:138
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Overriding aorta, Bicuspid aortic valve, ...	ORPHA:477817
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atrial septal def...	OMIM:214800
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Highly arched eyebrow, Prox...	OMIM:618619
Snijders Blok-Campeau Syndrome	Inguinal hernia, Perimembranous ventricular septal defect, High palate, Low-set ears, Pulmonic st...	OMIM:618205
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Polyhydramnios, Gastroesophageal reflux, Conductive hearing i...	OMIM:620186
Trisomy 13	High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Capillary hemangioma, Narrow chest,...	ORPHA:3378
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Absent middle phalanx of 3...	OMIM:308050
Neu-Laxova Syndrome 1	Polyhydramnios, Fetal akinesia sequence, Short neck, Calcaneovalgus deformity, Neonatal death, Ag...	OMIM:256520
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Premature delivery because of cervical insuffi...	ORPHA:1662
Ververi-Brady Syndrome	Cupped ear, Single umbilical artery, High palate, Transposition of the great arteries, Low-set ea...	OMIM:617982
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, Protruding...	ORPHA:96148
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Overlapping toe, Unilateral renal agenesis, Dysplastic corpus callosum, Patent ductu...	ORPHA:363444
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Mosaic Trisomy 16	Maternal diabetes, Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Abnorm...	ORPHA:1708
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Polyhydramnios, Short neck, Flexion contracture, Hemivertebr...	ORPHA:96334
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Sandestig-Stefanova Syndrome	Decreased fetal movement, Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, ...	OMIM:618804
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Abnormal ste...	OMIM:609192
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus, Macrotia, 2-3 toe ...	ORPHA:3304
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Con...	OMIM:157800
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa...	ORPHA:2345
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Asplenia, Lobulated tongue, Agenesis of ...	OMIM:249000
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata...	OMIM:608978
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Congenital diap...	ORPHA:1780
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu...	OMIM:208530
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Thoracic scoliosis, High, narrow palate, Wrist drop, Muscle fiber atrophy,...	ORPHA:1900
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Hip disloca...	OMIM:618651
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Posteriorly ro...	OMIM:619657
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Proximal placement of thumb...	ORPHA:1120
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hemivertebrae, Gastroesophageal reflux, Micropenis, Hypospadias, Tapered finger, Cryptorchidism, ...	OMIM:301040
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Hypospadias, Cryptorchidism, Cleft palate, Short 5th finger, Microph...	ORPHA:397590
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Polyhydramnios, Adrenal hypoplasia, Abnormal lung lobation, Holoprosencephal...	ORPHA:2166
Monosomy 18Q	Astrocytoma, Secundum atrial septal defect, Bilateral cryptorchidism, Low anterior hairline, High...	ORPHA:1600
Treacher-Collins Syndrome	Hypoplasia of penis, Low anterior hairline, Glossoptosis, Hypoplasia of the thymus, High palate, ...	ORPHA:861
Greenberg Dysplasia	Polyhydramnios, Beaded ribs, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia, Hypoplasti...	OMIM:215140
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir...	OMIM:619170
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totali...	OMIM:616749
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventricular septal defe...	OMIM:619227
Down Syndrome	Prenatal double bubble sign, Hypoplastic iliac wing, Conductive hearing impairment, Atrial septal...	OMIM:190685
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb h...	OMIM:619995
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ear...	ORPHA:2876
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, High pa...	ORPHA:96170
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular...	OMIM:620135
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, Short neck, Hi...	OMIM:208150
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Abnormal number of hair whorls, Mitral atresia, Patent ductus arterio...	OMIM:618164
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Curly eyelashes, Sensorineural hearing impairment,...	OMIM:301022
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Preaxial polyda...	OMIM:614976
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Low anterior hairline, Gastro...	OMIM:608779
Emanuel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux...	OMIM:609029
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anteri...	ORPHA:280195
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Recurrent respiratory infections, Prominent fingertip pads,...	ORPHA:251061
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d...	ORPHA:2970
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Benign Schwannoma	Intestinal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwanno...	ORPHA:252164
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensori...	ORPHA:73272
Houge-Janssens Syndrome 3	Inguinal hernia, Muscular ventricular septal defect, High palate, Atrial septal defect, Umbilical...	OMIM:618354
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Recurrent lo...	OMIM:618254
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o...	ORPHA:3426
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Abnormal lung morphology, Abnormal heart morphol...	ORPHA:439167
Scimitar Syndrome	Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal...	ORPHA:185
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Short neck, Synophrys, Protruding ear, High palate, Atrial septal defect, ...	OMIM:612474
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Trichohepatoenteric Syndrome 1	Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepato...	OMIM:222470
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha...	OMIM:618223
Noonan Syndrome	Lymphedema, Abnormality of the spleen, Pectus carinatum, Enlarged thorax, Coarse hair, High palat...	ORPHA:648
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Birk-Aharoni Syndrome	Macrocytic anemia, Cryptorchidism, Muscular ventricular septal defect, Micropenis, Thick eyebrow,...	OMIM:620071
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Transient ischemic attack, Cardiomegaly, ...	OMIM:115197
Giant Cell Arteritis	Glossitis, Pericarditis, Renal insufficiency, Diabetes insipidus, Alopecia, Abnormal pleura morph...	ORPHA:397
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Premature birth, Synophrys, Abnormal rib morphology, Pectus carinatum, Radioul...	ORPHA:3268
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ...	OMIM:619472
Renpenning Syndrome	Skeletal muscle atrophy, Alopecia, Diabetes mellitus, Hypospadias, Abnormal hairshaft morphology,...	ORPHA:3242
Fryns Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Short neck, Abnormal aortic arch morphology, Hig...	ORPHA:2059
Feingold Syndrome Type 1	Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Co...	ORPHA:391641
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of...	ORPHA:3047
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Decreased nerve conduction velocity...	OMIM:616652
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal rib morphology, Abnormal form...	ORPHA:1354
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Decreased fetal movement, Wide anterior fontanel, Patent ductus ar...	OMIM:614886
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Right ventricular dilatation, Anteriorly placed anus, High palate, Prominent...	OMIM:612863
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Lens coloboma...	ORPHA:42775
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Esophageal atresia, Sensorine...	ORPHA:87
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,...	OMIM:614779
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Alobar holoprosencephaly, Gastroesophageal reflux, Thoracic hemivertebrae,...	OMIM:301043
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Protrud...	ORPHA:1166
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Schwannoma, Odynophagia, Chiari t...	ORPHA:221098
X-Linked Intellectual Disability, Nascimento Type	Hypoplasia of the pons, Abnormal hair whorl, Synophrys, Neutropenia, Vesicoureteral reflux, Micro...	ORPHA:163956
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Atr...	OMIM:300166
Wrinkly Skin Syndrome	Scapular winging, Inguinal hernia, Congenital hip dislocation, Short nail, Hypoplasia of the musc...	OMIM:278250
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Short neck, Edema, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Holo...	OMIM:269860
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, Protruding ear, High pal...	OMIM:249420
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Paten...	OMIM:192350
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular canal defect, Abnormal ve...	ORPHA:210122
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept...	ORPHA:99095
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morph...	ORPHA:567
Trisomy 1Q	Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Agenesis of corpus callosum, Mu...	ORPHA:261344
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Degcags Syndrome	Polyhydramnios, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior ha...	OMIM:619488
Hypothyroidism Due To Tsh Receptor Mutations	Reduced radioactive iodine uptake, Edema, Delayed proximal femoral epiphyseal ossification, Eleva...	ORPHA:90673
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Gastroesophageal reflux, Atrial septal defect, Hypoplas...	ORPHA:79345
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric...	ORPHA:392
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Syno...	ORPHA:2162
Cartilage-Hair Hypoplasia	Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum...	ORPHA:175
Doors Syndrome	Adrenal hyperplasia, Abnormal placental membrane morphology, Polyhydramnios, Hemivertebrae, Low a...	ORPHA:79500
Alg3-Cdg	Abnormality of the gastrointestinal tract, Abnormal pinna morphology, Hypoplasia of the pons, Abn...	ORPHA:79321
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Brachydactyly, Muscular ventricular septal defect, Hydrocele testis, Low-set e...	OMIM:620062
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, Abnormal fing...	ORPHA:536471
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Subchorionic...	ORPHA:116
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu...	ORPHA:1330
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Goiter, Bronchiectasis, Right aortic arch, Hypothyroidism, ...	OMIM:617577
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter...	OMIM:611376
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Conductive hearing impairment, Widow's peak, Posta...	OMIM:136760
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Iris coloboma, Lo...	ORPHA:2308
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Lipoma, Hemangioma, Venous...	OMIM:176920
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Vertebrobasilar dolichoectasia, Tapered finger, Long fingers, Calcaneovalgus ...	ORPHA:521445
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital...	ORPHA:887
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Asplenia, Atrioventricular canal de...	OMIM:605376
Toriello-Carey Syndrome	Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia, High palate,...	ORPHA:3338
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Facial edema...	ORPHA:90674
Noonan Syndrome 12	11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st...	OMIM:618624
Robinow Syndrome	Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217085
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Crypto...	ORPHA:52
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydr...	OMIM:606812
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa...	ORPHA:217093
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Neonatal...	ORPHA:1667
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Breast carcinoma, Abnormal lymp...	ORPHA:97290
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Ureteral duplication, Polyhydramnios, Adrenal hypoplasia, ...	OMIM:275210
Shprintzen-Goldberg Craniosynostosis Syndrome	Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Chiari type I malformation, High p...	OMIM:182212
Phace Association	Anomalous branches of internal carotid artery, Dandy-Walker malformation, Ventricular septal defe...	OMIM:606519
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Highly arched eyebrow, Adrenal insufficiency, Pulmonic...	ORPHA:251076
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa...	ORPHA:95716
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short...	ORPHA:264450
Kagami-Ogata Syndrome	Polyhydramnios, Flexion contracture, Atrial septal defect, Frontal hirsutism, Hepatomegaly, Prema...	OMIM:608149
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Symphalangism affecting the phalanges of the hand, ...	ORPHA:2990
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Sandal gap, Congenital diap...	OMIM:300887
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Neoplasm of head and neck, Chronic noninfectious lymphadenopathy, A...	ORPHA:319487
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Fetal akinesia sequence, Flexion contracture, Long coccyx...	OMIM:156530
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Short neck, Chiari type I malformation, Coarse hair...	OMIM:130720
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ...	ORPHA:581
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Cardiomegaly, Fetal akinesia sequence, Short neck, Hydrops fetalis, Femoral b...	OMIM:617022
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea...	ORPHA:284169
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Facial capillary hemangioma, Polyhydramnios...	ORPHA:818
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s...	OMIM:253010
Osteogenesis Imperfecta	Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Abn...	ORPHA:666
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Vesicoureteral reflux, Conductive hearin...	OMIM:113650
Dextrocardia	Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve...	ORPHA:1666
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Shor...	ORPHA:508488
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Short neck, Asplenia, Hemivertebrae, Hydrops fetalis, Abnorm...	ORPHA:99776
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog...	ORPHA:580
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ear...	OMIM:612946
De Barsy Syndrome	Decreased muscle mass, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent veins ...	ORPHA:2962
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi...	OMIM:613686
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Proximal placement of thumb, High, narrow palate, Knee flexion contractu...	ORPHA:435638
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Low-set ears, Chronic otitis ...	ORPHA:276422
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P...	ORPHA:93267
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Chiari type I malformation, ...	ORPHA:798
Distal Triplication 15Q	Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect, Dandy-Walker...	ORPHA:314588
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Micropenis, Ret...	OMIM:614464
Parkes Weber Syndrome	Back pain, Abnormal femoral metaphysis morphology, Peripheral arteriovenous fistula, Cerebral art...	ORPHA:90307
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic an...	ORPHA:90308
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal...	ORPHA:254534
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, High palate, Gastro...	OMIM:300373
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, He...	ORPHA:83617
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma...	ORPHA:3455
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Lymphedema, Synophrys, Abnormal sternum morphology, Hypospadias, Inc...	OMIM:616737
Cat Eye Syndrome	Biliary atresia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris colobo...	OMIM:115470
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis ...	OMIM:264480
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery...	OMIM:619702
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Short neck, Pectus carinatum, Chiari type I malformation, Coarse hair, High palat...	OMIM:617506
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Congenital...	ORPHA:1488
Chromosome 6Pter-P24 Deletion Syndrome	Short neck, High palate, Clinodactyly of the 5th finger, Atrial septal defect, Agenesis of corpus...	OMIM:612582
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus...	ORPHA:1507
Craniodiaphyseal Dysplasia	Optic atrophy, Abnormal rib morphology, Conductive hearing impairment, Stenosis of the external a...	ORPHA:1513
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti...	OMIM:203800
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Facial palsy, Sensorineural hearing impairment, Abnormal rib morphology...	ORPHA:2790
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Back pain, Abnormal medulla oblongata mor...	ORPHA:297
Thoracoabdominal Syndrome	Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrocephalu...	OMIM:313850
Noonan Syndrome With Multiple Lentigines	Pectus carinatum, Severe sensorineural hearing impairment, Atrioventricular canal defect, Spina b...	ORPHA:500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ...	ORPHA:99050
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Facial capillary...	OMIM:274000
Kallmann Syndrome-Heart Disease Syndrome	Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery from the pulmonary artery...	ORPHA:2326
Diastrophic Dysplasia	Hip contracture, Hitchhiker thumb, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costa...	OMIM:222600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Short 3rd toe, Tapered finger, Dysplastic corpus callosum, Muscular ventricular septal ...	OMIM:618569
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Anorectal anomaly, Abnorm...	ORPHA:1834
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Cardiomegaly, Short neck, Beaded ribs, Flexion contracture, Hydrops fetalis, Larg...	OMIM:616897
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Noonan Syndrome 2	Polyhydramnios, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial se...	OMIM:605275
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Abnormal lung lobation, High palate, Gastroesop...	OMIM:607872
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Gastrointestinal dysmotility, Coloboma, Vertebral segmentation defect, Hig...	ORPHA:453499
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Polyhyd...	OMIM:618846
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Abnormality of the liver, Neoplasm, High palate, Triphalan...	ORPHA:84
Noonan Syndrome 8	Atrial septal defect, Curly hair, Ventricular septal defect, Polyhydramnios, Short neck, Cryptorc...	OMIM:615355
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of the vertebral bodies,...	ORPHA:628
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g...	ORPHA:1461
Tarp Syndrome	Cerebellar vermis hypoplasia, Premature rupture of membranes, Glossoptosis, High palate, Atrial s...	OMIM:311900
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Clinodactyly, A...	ORPHA:2209
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, High palat...	ORPHA:536532
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Vesicoureteral reflux, Atrial septal defect,...	OMIM:610443
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Premature birth, Diastasis recti, Polyhydramnios, Short neck, Kypho...	ORPHA:254519
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Hypoplastic ischia, Short neck, Cardiomegaly, Wide distal femoral metaphys...	OMIM:613320
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante...	OMIM:253000
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Esop...	OMIM:301030
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Renal cyst, Coloboma, High palate, Gastroes...	OMIM:616975
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Sho...	ORPHA:1703
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Camptodactyly of fing...	ORPHA:2635
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Neonatal omphalitis, Pectus carinatum, Leukopenia, Hypoplasia of t...	OMIM:612541
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ...	ORPHA:280
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Atrial septal defect, Broad ribs, Vertebral fusi...	OMIM:139210
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Hydrops fetalis, Pectus carinatum, Coarse hair, ...	OMIM:253220
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a...	OMIM:601186
Chromosome 13Q33-Q34 Deletion Syndrome	Anteriorly placed anus, High palate, Narrow chest, Distally placed thumb, Agenesis of corpus call...	OMIM:619148
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Tarp Syndrome	Extramedullary hematopoiesis, Glossoptosis, Atrial septal defect, Small earlobe, Low-set, posteri...	ORPHA:2886
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten...	OMIM:249670
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphoproliferative disor...	ORPHA:33276
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Cleft palate, Scoliosis, Dysplastic pulmonary valve, Bifid uvula, Hearing imp...	OMIM:300958
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Omphalocele, Congenita...	ORPHA:991
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral segmentatio...	OMIM:611209
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Fibrochondrogenesis 1	Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi...	OMIM:228520
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, V...	ORPHA:209905
Bohring-Opitz Syndrome	Polyhydramnios, Flexion contracture, Low anterior hairline, Abnormal optic nerve morphology, Gast...	OMIM:605039
Familial Multiple Nevi Flammei	Edema, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Scoliosis, Abno...	ORPHA:624
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Portal hypertension, C...	OMIM:609136
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Hig...	ORPHA:2849
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Vesicoureteral reflux, Atrial septal defect, Micropenis, Bifid uvula, Hyp...	OMIM:617159
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:1908
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Alopecia, Inguinal hernia, Ventricular septal defect, Short metaca...	ORPHA:166035
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Inguinal hernia, Overlapping toe, Diastasis recti, Polyhydramnios, Pectus ...	ORPHA:254528
Holoprosencephaly 14	Cerebellar atrophy, Ventricular septal defect, Cyclopia, Alobar holoprosencephaly, Aqueductal ste...	OMIM:619895
Trisomy 18	Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Atrial septal defect, Iris col...	ORPHA:3380
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Aplastic anemia, Short neck, Abnormal lung lobation, Micropenis, Abnormal ...	OMIM:300514
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Omphalocele, Posteriorly rotated ears, Polyhydramnios, Congenital dia...	OMIM:263210
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Cowden Syndrome 1	Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,...	OMIM:158350
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:226313
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformation, Bilateral cryptorc...	OMIM:150230
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon...	ORPHA:95715
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Short neck, Proximal placement o...	OMIM:229850
Dyssegmental Dysplasia, Silverman-Handmaker Type	Short neck, Bowing of the legs, Flexion contracture, Hydrops fetalis, Narrow chest, Anisospondyly...	ORPHA:1865
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Tetrasomy 15Q26	Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hy...	OMIM:614846
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal nerve conduction v...	ORPHA:93473
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Papillary thyroid carcinoma, Atrial septal d...	OMIM:118450
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus totalis, Kyphosis, Mitral...	OMIM:609008
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesop...	ORPHA:254892
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Facial diplegia, Elevated circu...	OMIM:122860
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Noonan Syndrome 10	Atrial septal defect, Curly hair, Ventricular septal defect, Short neck, Pectus excavatum, Crypto...	OMIM:616564
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Ventricular septal defect, Hypospadias, Cryptorchidism, Partial agenesis of t...	OMIM:619103
Microphthalmia With Limb Anomalies	Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-...	ORPHA:1106
Gm1 Gangliosidosis Type 1	Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Aspiration pneum...	ORPHA:79255
Orofaciodigital Syndrome V	Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamartoma of tongue, Opt...	OMIM:174300
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Horizontal ribs, Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduri...	OMIM:614857
Femoral-Facial Syndrome	Maternal diabetes, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Cry...	ORPHA:1988
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Micropenis, Agenesis of corpus callosum, ...	OMIM:206900
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Cerebral edema, Abnormal autonomic nervous system physiology, ...	ORPHA:83601
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa...	ORPHA:439
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Vertebral segmentation defect, High palate, Vesicoureteral reflu...	ORPHA:2745
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Optic nerve hypoplasia, Polyhydramnios, Decreased r...	OMIM:615280
Adams-Oliver Syndrome	Leukopenia, Sparse hair, Pulmonary artery atresia, Encephalocele, Finger syndactyly, Alopecia, Pr...	ORPHA:974
Stuve-Wiedemann Syndrome 1	Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Sparse hair, ...	OMIM:601559
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair...	OMIM:300232
Zttk Syndrome	Unilateral lung agenesis, Flexion contracture, Hemivertebrae, Protruding ear, High palate, Atrial...	OMIM:617140
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Clinodactyly of the 5th finger, Conductive hea...	ORPHA:3082
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Pectus carinatum, High palat...	OMIM:115150
White Forelock With Malformations	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal rib morphology, White forelock, Cl...	ORPHA:2475
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hallux valgus, Sacral dimple, Dilation of Virchow-Robin spaces...	ORPHA:261311
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp...	ORPHA:2306
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Goiter, Kyphosis, Pectus excavatum, Th...	OMIM:615108
Maffucci Syndrome	Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o...	ORPHA:163634
Cowden Syndrome 6	Hamartomatous polyposis, High palate, Hypothyroidism, Transitional cell carcinoma of the bladder,...	OMIM:615109
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Polyhydramnios, Decreased respon...	OMIM:213980
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc...	OMIM:617925
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, Clinodactyly of the 5th...	OMIM:619149
Cantú Syndrome	Cardiomegaly, Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism,...	ORPHA:1517
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Abnormality of the ear, Tibial metaphyseal irregularity, Cox...	ORPHA:457395
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Polyhydramnio...	ORPHA:3301
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Sarcosinemia	Peroneal muscle weakness, Optic atrophy, Infantile sensorineural hearing impairment, Pulmonic ste...	ORPHA:3129
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Gastroesophagea...	OMIM:618188
Jacobsen Syndrome	Short neck, Flexion contracture, Holoprosencephaly, Chorioretinal coloboma, Atrial septal defect,...	OMIM:147791
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Aqueduc...	OMIM:154400
Alg9-Cdg	Villous atrophy, Short neck, Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatatio...	ORPHA:79328
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, Lymphedema, High palate, Thickened helices, Sparse hair, Atrial septal ...	ORPHA:1340
Distal Deletion 12Q	Short neck, Ectopic kidney, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middl...	ORPHA:96149
Heart And Brain Malformation Syndrome	Attached earlobe, Cerebellar vermis hypoplasia, Ventricular septal defect, Camptodactyly of finge...	OMIM:616920
Lymphatic Malformation 6	Polyhydramnios, Edema, Facial edema, Lymphedema, Periorbital edema, Gastroesophageal reflux, Atri...	OMIM:616843
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Brachydactyly, Abnormal intervertebral disk...	ORPHA:2701
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S...	OMIM:616300
Aspergillosis	Eosinophilia, Pneumonia, Hematological neoplasm, Hypersensitivity pneumonitis, Vitritis, Hepatiti...	ORPHA:1163
Diamond-Blackfan Anemia 7	Polyhydramnios, Secundum atrial septal defect, Triphalangeal thumb, Neutropenia, Vesicoureteral r...	OMIM:612562
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
3M Syndrome	Congenital hip dislocation, Abnormal cerebral vascular morphology, Short neck, Hypoplastic ischia...	ORPHA:2616
Costello Syndrome	Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Pectus carinatum, Chiari typ...	OMIM:218040
Jeune Syndrome	Abnormality of retinal pigmentation, Renal insufficiency, Abnormal clavicle morphology, Toe synda...	ORPHA:474
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Low ...	OMIM:617137
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Abnormal pinna morphology, Facial palsy, Hypogonado...	ORPHA:3068
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Cryptorchidism...	ORPHA:2772
Enlarged Parietal Foramina	Occipital encephalocele, Multiple exostoses, Myelomeningocele, Cleft palate, Short clavicles, Abn...	ORPHA:60015
Mucolipidosis Ii Alpha/Beta	Brittle hair, Cardiomegaly, Metaphyseal widening, Sparse hair, Hepatomegaly, Thoracolumbar kyphos...	OMIM:252500
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
8P Inverted Duplication/Deletion Syndrome	Short neck, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, Clinodactyly o...	ORPHA:96092
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Pulmonary a...	ORPHA:96167
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Cerebral arterio...	ORPHA:137667
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Short neck, Proximal placement of thu...	OMIM:261540
Autosomal Dominant Spastic Paraplegia Type 10	Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Spastic/hypera...	ORPHA:100991
Legius Syndrome	Posteriorly rotated ears, Short neck, Pectus excavatum, High, narrow palate, Neurofibroma, Suprav...	OMIM:611431
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Hepatic fibrosis, Thoracic dysplasia, Nephro...	OMIM:615630
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Sandal gap, Cupped ear, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Sma...	OMIM:618914
Campomelic Dysplasia	Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowing, Delayed epiphyseal...	OMIM:114290
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Triphalangea...	ORPHA:857
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Sensorineural hearing impairment, Elevate...	OMIM:614300
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Short neck, Short thorax, Abnormal rib morphology, Hy...	ORPHA:93298
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus, Clinodactyly of ...	ORPHA:228190
Weill-Marchesani Syndrome 2	Short metatarsal, High palate, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal...	OMIM:608328
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Vascular dilatation, Sensorine...	OMIM:611584
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252900
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Arboleda-Tham Syndrome	Secundum atrial septal defect, Bilateral cryptorchidism, Anteverted ears, Long thorax, Gastroesop...	OMIM:616268
Kleefstra Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Gastroesophageal reflux, Vesic...	ORPHA:261494
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Polyhydramnios, Short neck, Low anterior hairline, Coxa vara, Pectus car...	ORPHA:800
Aicardi Syndrome	Cerebellar vermis hypoplasia, Proximal placement of thumb, Chorioretinal lacunae, Partial agenesi...	OMIM:304050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal reflux, Clinodactyly of t...	OMIM:614701
Bilateral Polymicrogyria	Cerebellar atrophy, Sensorineural hearing impairment, Abnormality of masticatory muscle, Central ...	ORPHA:268940
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg...	ORPHA:2072
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky...	OMIM:603387
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Pat...	OMIM:618961
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Low back pain, Neurogenic bladder, Urinary incontinence,...	ORPHA:79093
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia, Hypothyroidism, Goiter	OMIM:274400
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Menkes Disease	Venous insufficiency, Intracranial hemorrhage, Narrow chest, Sparse hair, Abnormal carotid artery...	ORPHA:565
Kabuki Syndrome 2	Protruding ear, High palate, Prominent fingertip pads, Atrial septal defect, Atrioventricular can...	OMIM:300867
Mccune-Albright Syndrome	Abnormal femur morphology, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperth...	ORPHA:562
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi...	OMIM:151050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic f...	OMIM:263520
Noonan Syndrome 7	Curly hair, Thickened helices, Short neck, Pectus excavatum, Lentigo maligna melanoma, Dysphagia,...	OMIM:613706
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Neoplasm, Gastroesop...	ORPHA:353281
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo...	OMIM:609945
1Q21.1 Microdeletion Syndrome	High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Agenesis of corpus callosum, ...	ORPHA:250989
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Short neck, Ectopic kidney, Proximal placement of thumb, Synophr...	OMIM:122470
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Coxa valga, Short thorax, Advanc...	OMIM:618363
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Vertebral segmentation defect, Chorioretinal coloboma, Triphalan...	ORPHA:959
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Inguinal hernia, Highly arched eyebrow, Protruding tong...	ORPHA:96147
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline,...	OMIM:610759
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa...	OMIM:208540
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Polyhydramnios, Edema of the dorsum of hands, Flexion contracture, Type ...	ORPHA:171430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Multicys...	ORPHA:500095
Esophageal Atresia	Polyhydramnios, Maternal diabetes, Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, A...	ORPHA:1199
Von Willebrand Disease	Venous insufficiency, Deviation of finger, Abnormal mitral valve morphology	ORPHA:903
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Bilateral cryptorchidism, Clinodactyly of the 5th finger, Dilated third ventricle...	ORPHA:544488
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Brachydactyly, Short neck, Abnormality of the humerus, Wide anterior font...	ORPHA:3098
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Polyhydramnios, Short neck, Pectus excavatum, Crypt...	OMIM:613224
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Posteriorly rotated ears, Intestinal malrotation,...	ORPHA:2328
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Chiari type I ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Chiari type I ...	ORPHA:353277
Melnick-Needles Syndrome	Omphalocele, Recurrent respiratory infections, Bowing of the long bones, Coxa valga, Short thorax...	ORPHA:2484
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Pectus ca...	ORPHA:137634
Noonan Syndrome 4	Ureteral duplication, Pectus excavatum of inferior sternum, Curly hair, Ventricular septal defect...	OMIM:610733
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotated ears, Finger...	ORPHA:3320
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morpho...	ORPHA:1797
Cat-Eye Syndrome	Abnormal rib morphology, Hydronephrosis, Hip dysplasia, Chorioretinal coloboma, Iris coloboma, An...	ORPHA:195
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pancreatic endocrine tumor, Cranial nerve co...	ORPHA:652
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr...	OMIM:274300
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,...	OMIM:274600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Pa...	ORPHA:77298
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Partial agenesis of the corpus callosu...	OMIM:135900
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve ...	OMIM:230500
Noonan Syndrome 11	Posteriorly rotated ears, Pectus excavatum, Bilateral sensorineural hearing impairment, Low-set e...	OMIM:618499
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Nephroblastoma, Rhabdomyosarcoma, Short neck...	ORPHA:77301
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri...	OMIM:301068
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, Recurrent pneumonia...	OMIM:613807
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Renal cyst, Anteriorly placed anus, G...	OMIM:117650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Premature birth, Posteriorly rotated ears, Polyhydramnios, Miss...	ORPHA:2759
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing...	ORPHA:1647
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Congenital hip dislocation, Proximal placement of thum...	ORPHA:456312
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Pectus excavatum, Cryptorchidism, Conductive hearing impairmen...	ORPHA:1131
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Chiari type I malformation, Early on...	OMIM:194050
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Premat...	ORPHA:2256
Microform Holoprosencephaly	Hypoplasia of penis, Premature birth, Cyclopia, Maternal diabetes, Hypothyroidism, Cleft palate, ...	ORPHA:280200
Thyrocerebrorenal Syndrome	Renal insufficiency, Abnormality of the musculature of the limbs, Sensorineural hearing impairmen...	ORPHA:3327
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Noonan Syndrome 9	Curly hair, Hydroureter, Ventricular septal defect, Short neck, Sparse eyebrow, Cryptorchidism, C...	OMIM:616559
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Coarse hai...	ORPHA:198
Acrocardiofacial Syndrome	Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Hyperthyroidism, Hypospadias, Crypt...	ORPHA:2008
Tyshchenko Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, Posteriorly rot...	OMIM:615102
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ...	ORPHA:75508
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituita...	ORPHA:97289
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valv...	ORPHA:667
Bohring-Opitz Syndrome	Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Agenesis of corpus callosum, Dandy-Wal...	ORPHA:97297
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Elbow contracture, Pectus excavatum, Patent ductus ...	OMIM:618162
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Pectus carinatum, Clinodactyly of the 5th finger, Tapered finger, Conge...	ORPHA:488642
Atelosteogenesis Type I	Short femur, Polyhydramnios, Malrotation of colon, Abnormal ossification involving the femoral he...	ORPHA:1190
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma...	OMIM:615415
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, High palate, Narrow chest, ...	OMIM:613610
Warsaw Breakage Syndrome	Ventricular septal defect, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, 2-3 toe sy...	OMIM:613398
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Premature birth, Abnormal retinal morpholo...	ORPHA:40366
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinatum, Co...	ORPHA:309282
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial agenesis of the corpus c...	OMIM:617478
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult...	OMIM:615508
Kawasaki Disease	Glossitis, Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria,...	ORPHA:2331
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Cleidocranial Dysplasia	High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Chronic ot...	ORPHA:1452
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Gastrointestinal dysmotility, Hemivertebrae, Protruding ear, Cerebellar...	ORPHA:500150
Achondrogenesis Type 1A	Thickened nuchal skin fold, Multiple rib fractures, Polyhydramnios, Short neck, Short thorax, Hyd...	ORPHA:93299
Frontoocular Syndrome	Posteriorly rotated ears, Pectus excavatum, High palate, Capillary hemangioma, Low-set ears, Pulm...	OMIM:605321
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax...	ORPHA:2519
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Hydrop...	ORPHA:268249
Mosaic Variegated Aneuploidy Syndrome 1	Short neck, Renal cyst, Atrial septal defect, Micropenis, Agenesis of corpus callosum, Dandy-Walk...	OMIM:257300
Feingold Syndrome 1	Polyhydramnios, Asplenia, High palate, Accessory spleen, Short thumb, Patent ductus arteriosus, S...	OMIM:164280
Basal Cell Nevus Syndrome 1	Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebra...	OMIM:109400
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Costello Syndrome	Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Ventricular septal defect, Polyhyd...	ORPHA:3071
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Abnormal internal carotid artery m...	ORPHA:97685
Schneckenbecken Dysplasia	Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro...	OMIM:269250
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Polyhydramnios, Short neck, Abnormal ...	ORPHA:1486
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r...	ORPHA:2215
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Protruding ear, High palate, Gastroesophageal reflux, Hypothyro...	OMIM:619325
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Lymphedema, High, narrow palate, Abnormal sternum m...	OMIM:163950
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl...	OMIM:268310
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Polyhydramnios, Edema, Secundum atrial septal defect, Aqueductal s...	OMIM:619534
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Aicardi Syndrome	Partial agenesis of the corpus callosum, Protruding ear, Multiple lipomas, Gastroesophageal reflu...	ORPHA:50
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal penis morphology, Sacral dimple, Finger syndactyly, Posteriorly rotated e...	ORPHA:2211
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, ...	ORPHA:142
Chromosome 1P36 Deletion Syndrome, Proximal	Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Comple...	OMIM:619343
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Myelomeningocele, Scoliosis, Pulmonic stenosis, Contracture of the proximal inte...	OMIM:620141
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Velocardiofacial Syndrome	Retinal vascular tortuosity, Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Cryp...	OMIM:192430
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Visceral angiomatosis, Ovarian neoplasm, Arteriovenous malformation, Neopla...	ORPHA:137608
Meckel Syndrome	Ureteral duplication, Asplenia, Urethral atresia, Dandy-Walker malformation, Accessory spleen, En...	ORPHA:564
Craniofacioskeletal Syndrome	Barrel-shaped chest, Absent gallbladder, Ventricular septal defect, Posteriorly rotated ears, Hyp...	OMIM:300712
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Tapered finger, Synophrys, Hip dysplasia, Microtia, High palate, Gastroesophage...	OMIM:616977
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Premature birth, Goiter, Splenomegaly, Jaundice, Thy...	ORPHA:525731
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno...	ORPHA:1110
Baller-Gerold Syndrome	Patellar hypoplasia, Anteriorly placed anus, High palate, Midface capillary hemangioma, Conductiv...	OMIM:218600
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Cond...	OMIM:136140
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Sm...	OMIM:187600
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Hemivertebrae, Gastroesophageal reflux, Micropenis, D...	OMIM:134780
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Finger syndactyly, Ventricular septal defect, Aortopulmonary coll...	OMIM:620025
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,...	OMIM:225250
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphosis, High, narr...	OMIM:162300
Ivic Syndrome	Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, Hypoplasia of the ulna, L...	OMIM:147750
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Prominent superficial veins, Alopecia, Sparse eyelashes, Left atrial enlargeme...	OMIM:614008
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Noonan Syndrome 14	Curly hair, Scapular winging, Posteriorly rotated ears, Polyhydramnios, Short neck, Pectus excava...	OMIM:619745
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Venous insufficiency, Spleno...	ORPHA:2969
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aort...	ORPHA:449400
Feingold Syndrome	Hallux valgus, Toe syndactyly, External ear malformation, Abnormality of the spleen, Patent ductu...	ORPHA:1305
Neurofibromatosis-Noonan Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal thorax morphology, Dysphagia, Abnorma...	ORPHA:638
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Facial hypotonia, Optic nerve hypoplasia, Unilateral renal agenesis, Olivopontoc...	ORPHA:457284
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula...	OMIM:600791
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Knee flexion contracture, Increased density of long b...	OMIM:305620
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogon...	ORPHA:251066
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabul...	OMIM:151210
Pendred Syndrome	Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp...	ORPHA:705
Noonan Syndrome 5	Curly hair, Thickened helices, Polyhydramnios, Short neck, Sparse eyebrow, Cryptorchidism, Fine h...	OMIM:611553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Capillary hemangioma, Atrial se...	ORPHA:163979
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Lipoma, N...	OMIM:612918
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Abnormality of the urethra, Split hand, Abnormal rib morphology...	ORPHA:2145
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Aspl...	ORPHA:261537
Tetrasomy 9P	Myositis, Glue ear, Short neck, Biliary atresia, High palate, Clinodactyly of the 5th finger, Mic...	ORPHA:3310
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia sequence, Edema, Fl...	OMIM:312150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Aspl...	ORPHA:261552
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, Aplasia/Hypoplasia of ...	ORPHA:3472
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral...	ORPHA:2180
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Pectus carinatum, Abnormal sternum morphology,...	OMIM:613795
Hallermann-Streiff Syndrome	High, narrow palate, Metaphyseal widening, High palate, Chorioretinal coloboma, Sparse hair, Iris...	OMIM:234100
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Epispadias, Partial agenesis of the corpus...	OMIM:615948
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A...	ORPHA:79452
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Conductive hearing i...	ORPHA:261197
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Thickened helices, Polyhydramnios, P...	OMIM:609942
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral ner...	ORPHA:542643
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ...	ORPHA:2347
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,...	ORPHA:2522
H Syndrome	Microcytic anemia, Micropenis, Alopecia, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegal...	ORPHA:168569
Becker Nevus Syndrome	Hamartoma, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusio...	ORPHA:64755
Coffin-Siris Syndrome 4	Atrial septal defect, Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Mitral atresia...	OMIM:614609
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, ...	OMIM:616028
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus, H...	OMIM:601927
Mowat-Wilson Syndrome	Uplifted earlobe, Pectus carinatum, Chorioretinal coloboma, Atrial septal defect, Agenesis of cor...	OMIM:235730
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Bicuspid aortic valve, Toe syndactyly, Valvular pulmonary stenosis, 4-5 toe syndacty...	OMIM:300707
Distal Deletion 19P	Low-set, posteriorly rotated ears, Long toe, Alopecia, Ventricular septal defect, Arachnodactyly,...	ORPHA:96129
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Ventricular septal defect, Bowing of the legs, Sensorineu...	OMIM:617107
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Spleno...	ORPHA:583
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, C...	OMIM:615633
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Astrocytoma, Flexion contracture, Pedal edema...	ORPHA:821
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Conductive...	OMIM:194190
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Short neck, High,...	ORPHA:488632
Odontochondrodysplasia 1	Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthisis, Short phalanx of finger, ...	OMIM:184260
15Q11.2 Microdeletion Syndrome	Dilated fourth ventricle, Ventricular septal defect, Abnormal pinna morphology, Abnormal heart mo...	ORPHA:261183
17Q24.2 Microdeletion Syndrome	Otosclerosis, Decreased response to growth hormone stimulation test, Short neck, Synophrys, Paten...	ORPHA:529962
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, S...	OMIM:252930
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep...	OMIM:615219
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C...	ORPHA:582
Temple-Baraitser Syndrome	Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Gastroesophageal reflux, ...	OMIM:611816
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Polyhydramnios, Short neck, Synophrys, Flexion contracture, High palate, Gene...	OMIM:620369
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, High, narrow palate, Hypo...	ORPHA:3258
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Bowing ...	ORPHA:1318
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Chiari type I malformation, Clinodactyly of the 5th finger, Tape...	ORPHA:1272
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Aortic dissection, Long fingers, Varicose veins, Premature rupture of membranes, Cerebellar hypop...	OMIM:618343
Atelis Syndrome 2	Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Patent ductus arteriosus, Eleva...	OMIM:620185
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of...	ORPHA:3186
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hepatic ...	ORPHA:84064
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum...	ORPHA:2091
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern...	ORPHA:2847
Mosaic Trisomy 8	Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow chest, Clinodactyl...	ORPHA:96061
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Fetal akinesia sequence, Edema, Fl...	OMIM:253290
Fetal Iodine Deficiency Disorder	Congenital hypothyroidism, Congenital goiter, Hearing impairment	OMIM:228355
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Aspl...	ORPHA:2152
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Atrial septal defect, H...	ORPHA:1465
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati...	OMIM:143095
Townes-Brocks Syndrome 1	Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Triphalange...	OMIM:107480
Achondroplasia	Brachydactyly, Lumbar hyperlordosis, Bowing of the legs, Hip joint hypermobility, Wide anterior f...	ORPHA:15
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Protruding ear, Atrial...	OMIM:613458
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widen...	OMIM:608940
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Brachydactyly, Sensorineural hearing impairment, Elevated circulatin...	OMIM:601812
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Protruding ear, High palate, Atrial septal defec...	OMIM:147920
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Hearing abnormality, Wide...	ORPHA:2021
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp...	ORPHA:2319
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment	OMIM:178651
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma...	ORPHA:958
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch	OMIM:107550
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Polyhydramnios, Postaxial polydactyly, Splenomegaly, Patent ductus arteriosus, Post...	OMIM:617088
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Pectus c...	ORPHA:93351
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Retinal dystrophy, Highly arched eyebrow, ...	OMIM:615802
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax...	ORPHA:1801
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Gastroesophageal reflux, ...	ORPHA:17
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen...	OMIM:618280
Craniofacial Microsomia 1	Occipital encephalocele, Ectopic kidney, Hemivertebrae, Anotia, Conductive hearing impairment, Ve...	OMIM:164210
Branchial Arch Syndrome, X-Linked	Cryptorchidism, High, narrow palate, Protruding ear, High palate, Low-set ears, Pulmonic stenosis...	OMIM:301950
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Malabsorption, Venous insufficiency, Decreased nerve conduction velocity, Vertig...	ORPHA:285
Kleefstra Syndrome 1	Recurrent respiratory infections, Brachydactyly, Abnormal pinna morphology, Hypospadias, Protrudi...	OMIM:610253
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Protruding ear, Pectus carinatum, Iron deficiency anemia, Ti...	ORPHA:93315
Kniest Dysplasia	Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora...	ORPHA:485
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Cerebellar vermis hypoplasia, Hypospadias, Lymphedema, Dysplastic corp...	ORPHA:314679
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Dehydration, Protruding ear, Nephrocalcinosis, Olig...	ORPHA:534
Dysosteosclerosis	Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral endplates, High...	OMIM:224300
Ascher Syndrome	Upper eyelid edema, Deviation of finger, High palate, Hypothyroidism, Goiter	ORPHA:1253
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal fe...	OMIM:271640
Von Hippel-Lindau Disease	Back pain, Hypertensive retinopathy, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Upper ...	ORPHA:892
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fossa, Pectus carinatum, ...	OMIM:224690
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Conduc...	ORPHA:2044
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syn...	OMIM:252920
Occipital Horn Syndrome	Pectus carinatum, Coarse hair, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, Hiat...	OMIM:304150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, L...	OMIM:617895
Lymphangiectasia, Intestinal	Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiecta...	OMIM:152800
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Abnormality of the liver, Broad ribs, A...	ORPHA:228123
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General...	OMIM:264090
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Leopard Syndrome 1	Short neck, Protruding ear, Pectus carinatum, Aplasia of the ovary, Micropenis, Spina bifida occu...	OMIM:151100
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Decreased response to growth hormone stimulation test, Delayed epiphy...	OMIM:616007
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty...	ORPHA:276280
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Mixed hearing impairment, Unilateral renal agenesis, Short neck,...	OMIM:118100
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Skeletal muscle atrophy, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Kyphoscol...	ORPHA:75496
Retinal Dystrophy With Or Without Extraocular Anomalies	Retinal dystrophy, Pulmonary fibrosis, Goiter	OMIM:617175
Renpenning Syndrome 1	Brittle hair, Protruding ear, Coloboma, High palate, Sparse hair, Atrial septal defect, Clinodact...	OMIM:309500
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Var...	OMIM:619656
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology	ORPHA:743
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Osteogenesis Imperfecta, Type I	Otosclerosis, Biconcave flattened vertebrae, Mitral valve prolapse, Aortic aneurysm, Femoral bowi...	OMIM:166200
Aneurysm-Osteoarthritis Syndrome	Pectus carinatum, High palate, Abdominal aortic aneurysm, Bifid uvula, Arachnodactyly, Arterial t...	ORPHA:284984
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic...	ORPHA:568051
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Decreased serum testosterone concentration, Streak ovary, Abnormal perip...	ORPHA:168563
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Congenital ...	ORPHA:733
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short neck, Pectus excavatum, Pulmonic stenosis, Scoliosis...	OMIM:615279
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Short neck, Beaded ribs, Bowing of the le...	OMIM:200600
Opsismodysplasia	Polyhydramnios, Short neck, Edema, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ...	OMIM:258480
Cog1-Cdg	Low-set, posteriorly rotated ears, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia...	ORPHA:263508
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Posteriorly rotated ears, Congenital diaphragmatic ...	OMIM:613309
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang...	ORPHA:653
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Kyphosis, Gastrointestina...	ORPHA:88628
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Asplenia, Cryptorchidism, Kyphosis, Clef...	OMIM:619123
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior hairline, Vertebral segmentati...	ORPHA:2578
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Atri...	ORPHA:438213
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidney, Pectus excavatum, Hypoplasia of...	OMIM:212780
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Decreased fetal movement, ...	ORPHA:169189
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Eosinophilia, Recurrent pneumonia, Spinal canal steno...	OMIM:618282
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis	OMIM:185500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Abnormal rib mo...	ORPHA:2234
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,...	OMIM:224410
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V...	OMIM:126320
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Lethal Congenital Contracture Syndrome 5	Decreased fetal movement, Polyhydramnios, Centrally nucleated skeletal muscle fibers, Decreased n...	OMIM:615368
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Mckusick-Kaufman Syndrome	Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ...	ORPHA:2473
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Ap...	ORPHA:2167
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu...	ORPHA:2463
Myhre Syndrome	Epispadias, Short palm, Large iliac wing, Bifid uvula, Abnormal penis morphology, Hypospadias, Pr...	ORPHA:2588
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri...	OMIM:619698
Stüve-Wiedemann Syndrome	Sacral dimple, Bowing of the long bones, Camptodactyly of finger, Metaphyseal widening, Flexion c...	ORPHA:3206
Legius Syndrome	Chiari type I malformation, Multiple lipomas, Neoplasm of the central nervous system, Abnormal st...	ORPHA:137605
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m...	ORPHA:99868
Perlman Syndrome	Distal ileal atresia, Renal hamartoma, Polyhydramnios, Congenital diaphragmatic hernia, Edema, Hy...	OMIM:267000
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Spinal canal stenosis,...	OMIM:277600
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th...	ORPHA:249
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Pulmonic stenosis, Dehydration	ORPHA:79159
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Abnormal pinna morphology, Mitral valve prolapse, High palate, L...	ORPHA:228410
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Small hand, Mitral valve prolapse, High palate, Pulmonic stenosi...	ORPHA:2868
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Clapo Syndrome	Macrodactyly, Lymphedema, Pectus excavatum, Varicose veins, Capillary hemangioma, Narrow chest, G...	ORPHA:168984
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate, Abnormality of ...	OMIM:601076
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Abnormal thorax morphology, M...	ORPHA:73230
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Lymphe...	OMIM:153400
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Rhizomelic Syndrome	Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocation, Pulmonic stenosis, Co...	OMIM:268250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hydrops fetalis, Renal cyst, Hepatic fibrosis, Narrow chest, Thoracic dysplasia, High palate, Spa...	OMIM:614091
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Neutrop...	ORPHA:2643
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro...	OMIM:208500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Short palm, Hypoplastic iliac w...	OMIM:611717
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Ventricular septal defect, Highly arched eyebrow, Ectopic kidney,...	ORPHA:1519
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal coronary artery morphology, Abnormal hemidiaphragm mor...	ORPHA:980
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Thyroid Lymphoma	Hyperthyroidism, Lymphoma, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Atrial sept...	OMIM:269150
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Short neck, Hydrocephalus, Metaphyseal...	OMIM:224400
Blepharochalasis And Double Lip	Blepharochalasis, Goiter	OMIM:109900
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Hypoplast...	OMIM:610682
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea...	OMIM:300863
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Grant Syndrome	Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:2097
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal m...	ORPHA:3035
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cerebral arteriovenous malformation, Tongue telangiectasia, Venous varicosities of celiac and mes...	OMIM:187300
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym...	ORPHA:1332
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna...	OMIM:200980
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Sclerosteosis 1	Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Optic atrophy, 2-3 fi...	OMIM:269500
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Protruding ear, Gastrointestinal infarctions, Al...	ORPHA:286
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Narrow palate, Mitral valve pr...	ORPHA:555877
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag...	OMIM:613091
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Congenital hip dislocation, Anterior concavity of thoracic vertebra...	OMIM:216340
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern...	OMIM:100300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormality of the calcaneus...	ORPHA:163966
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased resp...	ORPHA:95494
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Gastroesophageal reflux, Pulmonic ...	ORPHA:2414
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter	OMIM:210740
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios, Postaxial polydactyly...	OMIM:615503
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Pectus carinatum, Gastroesophageal reflux, Narrow chest, Hepatic steatosis, He...	OMIM:619525
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Left atrial enlargement, Periphe...	ORPHA:75249
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Short thorax, Protruding ear, ...	OMIM:612921
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid...	OMIM:277300
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic hypogonadism, Superior ri...	OMIM:307500
Meige Disease	Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphedema, Facial ed...	ORPHA:90186
Congenital Tracheal Stenosis	Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun...	ORPHA:141127
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Hypothyroidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Acrocapitofemoral Dysplasia	Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast...	OMIM:607778
Fibrochondrogenesis 2	Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ...	OMIM:614524
Ehlers-Danlos Syndrome, Vascular Type	Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu...	OMIM:130050
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Premature birth, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anom...	ORPHA:555874
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Portal vei...	OMIM:619433
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Syndactyly, Cerebellar vermis hypoplasia, Sparse eye...	OMIM:619869
Renal Nutcracker Syndrome	Orthostatic hypotension, Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Abnormal a...	ORPHA:71273
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Posteriorly rotated ears, Hyperlordosis, Precocious puberty, Tapered finger, Synoph...	OMIM:301066
Spondyloepiphyseal Dysplasia Congenita	Back pain, Short neck, Glossoptosis, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h...	ORPHA:94068
You-Hoover-Fong Syndrome	Brachydactyly, Kyphoscoliosis, Pectus excavatum, Cleft palate, Coarctation of aorta, Vascular rin...	OMIM:616954
Congenital Tracheomalacia	Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Prematu...	ORPHA:95430
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G...	OMIM:250420
Serkal Syndrome	Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni...	ORPHA:139466
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Synophrys, Anotia, High...	ORPHA:261112
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutaneous syndactyl...	OMIM:600920
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Conductive hearing impairm...	ORPHA:1393
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Posteriorly rotated ea...	OMIM:607721
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger...	ORPHA:306542
Bent Bone Dysplasia Syndrome 2	Thickened nuchal skin fold, Hepatomegaly, Bowed humerus, Short neck, Short tibia, Ulnar bowing, H...	OMIM:620076
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Long ear, Aplasia...	OMIM:276820
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Flexion contracture, Thin...	OMIM:614833
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar...	OMIM:600460
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Polyhydramnios, Short neck, Abno...	ORPHA:1394
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Protruding ear, High palate, Atrial septal defect, Subcutaneous neurof...	ORPHA:363700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu...	OMIM:612422
Lymphedema-Distichiasis Syndrome	Diabetes mellitus, Proteinuria, Predominantly lower limb lymphedema, Patent ductus arteriosus, Cl...	ORPHA:33001
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Retinal dysplasia, Neutropenia...	OMIM:617052
Monosomy 13Q34	Posteriorly rotated ears, Fetal pyelectasis, Postaxial hand polydactyly, Abnormal earlobe morphol...	ORPHA:96168
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Wide anterior fontanel, Kyphosis, Thin ribs, Tibial bowing, Slender long bon...	OMIM:259420
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cerebral arteriovenous malformation, Tongue telangiectasia, Gastrointestinal arteriovenous malfor...	OMIM:600376
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Hypoplastic colon, Pancreatic fibrosis, Abnormal pinna morphology, Sho...	OMIM:200995
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vert...	OMIM:608681
Arterial Calcification, Generalized, Of Infancy, 2	Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Arterial calcification, Right atri...	OMIM:614473
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Abnormal Eustachian tube mor...	ORPHA:513456
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, T...	OMIM:166210
Encephalocraniocutaneous Lipomatosis	Alopecia, Neoplasm of the skeletal system, Abnormal eyelash morphology, Visceral angiomatosis, Co...	ORPHA:2396
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Schwannoma, Pituitary adenoma,...	OMIM:160980
Myotubular Myopathy With Abnormal Genital Development	Decreased fetal movement, Unilateral cryptorchidism, Hypospadias, Polyhydramnios, Centrally nucle...	OMIM:300219
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Short ...	OMIM:245150
Hypophosphatasia	Bowing of the long bones, Abnormal rib morphology, Narrow chest, Emphysema, Abnormal metaphysis m...	ORPHA:436
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Abnormal dentate nucleus mor...	ORPHA:48818
Glutaric Aciduria Iii	Glutaric aciduria, Hyperthyroidism, Goiter	OMIM:231690
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Polyhydramnios, Edem...	OMIM:200610
Brittle Cornea Syndrome	Hallux valgus, Retinal detachment, Arachnodactyly, Sensorineural hearing impairment, Abnormality ...	ORPHA:90354
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ...	OMIM:259440
Osteopetrosis With Renal Tubular Acidosis	Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, Hepatomegaly, ...	ORPHA:2785
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Bowing of the legs, Knee flexion contracture, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Squamous cell carcinoma, Premature graying of hair, Anteriorly placed...	OMIM:268400
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Increased intervertebral spac...	OMIM:619727
Robinow Syndrome, Autosomal Dominant 1	Short neck, High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislo...	OMIM:180700
Pontine Tegmental Cap Dysplasia	Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Rib fusion, Dysphagia, Scoliosis, ...	OMIM:614688
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Apla...	ORPHA:2470
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right atrial enlargement, Periphera...	ORPHA:1677
Liposarcoma	Varicose veins, Sarcoma	ORPHA:69078
Telangiectasia, Hereditary Hemorrhagic, Type 4	Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat...	OMIM:610655
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Bronchiectasis, Cholestasis...	OMIM:620233
Osteogenesis Imperfecta, Type X	Multiple rib fractures, Thoracic scoliosis, Inguinal hernia, Short femur, Bowing of the long bone...	OMIM:613848
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Chronic Atrial And Intestinal Dysrhythmia	Intestinal pseudo-obstruction, Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis	OMIM:616201
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo...	ORPHA:95712
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Posteriorly rotated ears, Short neck, Secundum atrial septa...	OMIM:601321
Ellis-Van Creveld Syndrome	Hypospadias, Horizontal ribs, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxial hand ...	OMIM:225500
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum, High palate...	OMIM:269300
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di...	ORPHA:99106
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Decreased fetal movement, Diabetes mellitus, Pancreatic fibrosi...	OMIM:616263
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Kbg Syndrome	Short neck, Epispadias, Synophrys, Low anterior hairline, Protruding ear, Thoracic kyphosis, Shor...	OMIM:148050
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate, Conotruncal defect, Anotia, Microtia	OMIM:243440
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr...	OMIM:618395
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Cole-Carpenter Syndrome 2	Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, High palate, Narrow iliac wi...	OMIM:616294
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ...	OMIM:616229
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Broad femoral neck, Short neck, Thickened cortex of long bones, Abnorm...	ORPHA:488434
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Hematological neoplasm, Gastro...	ORPHA:99147
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Thin ribs, Femoral bowing, Long eyelashes, Biconcave vertebral bodies, ...	OMIM:617952
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Pulmonic stenosis, Brachydactyly	OMIM:614819
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st...	OMIM:620067
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri...	ORPHA:2050
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal rib morpholo...	ORPHA:83
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Vertebral arch a...	ORPHA:85184
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Epispadias, High, narrow palate, Anotia, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Neutropenia, Genu va...	OMIM:617941
Cirrhotic Cardiomyopathy	Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Jaundice, Peripheral edema,...	ORPHA:57777
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Thyr...	ORPHA:79078
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch...	ORPHA:93317
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Torticollis, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis	OMIM:314300
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Thin ribs, Slender long bone, Aniridia, H...	OMIM:602361
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula	OMIM:619239
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux, Art...	OMIM:618265
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal p...	ORPHA:3404
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate	OMIM:602196
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Brachydactyly, Posteriorly rotated ears, Hypospadias, Bowed humeru...	OMIM:619479
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Cavernous hemangioma of the face, Coarctation of aorta, Right aortic arch, ...	OMIM:140850
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Osteogenesis Imperfecta, Type Xv	Hypoplasia of the pons, Thin ribs, Platyspondyly, Cerebellar hypoplasia, Scoliosis	OMIM:615220
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal earlobe morphology, ...	ORPHA:2769
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Stroke, Left atrial enlargement, Right atrial enlargement	OMIM:617047
Intellectual Developmental Disorder, Autosomal Dominant 45	Arachnodactyly, Scoliosis, Pulmonic stenosis	OMIM:617600
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,...	ORPHA:99104
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Abnormal p...	ORPHA:2907
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s...	ORPHA:100078
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Premature birth, Increased circulat...	OMIM:609152
Geleophysic Dysplasia 1	Hepatomegaly, Camptodactyly of finger, Tricuspid stenosis, Coxa valga, Pectus excavatum, Hypoplas...	OMIM:231050
Mandibuloacral Dysplasia Progeroid Syndrome	Flexion contracture, High palate, Macrovesicular hepatic steatosis, Sparse hair, Patent foramen o...	OMIM:619127
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Cryptorchidism, Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile...	ORPHA:456328
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Pulmonary fib...	OMIM:612852
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,...	OMIM:211350
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Xylt1-Cdg	Hepatomegaly, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Short clav...	ORPHA:370930
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,...	OMIM:244460
Radio-Renal Syndrome	Multicystic kidney dysplasia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal...	ORPHA:3015
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem...	ORPHA:89936
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy...	OMIM:600002
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Hydrops fetalis, Reticulocytopenia, Dehydration, 3-Methylg...	OMIM:557000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ...	OMIM:271520
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo...	OMIM:252600
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Inguinal hernia, Short metacarpal, Radial bowing, Femoral retroversion, Wide...	OMIM:610915
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Multiple rib fractures, Femur fracture, Splenomegaly, Hydrocephalus, Recurrent pneu...	OMIM:612301
Duodenal Atresia	Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter...	ORPHA:1203
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Genu valgum, Pulmonic stenosis, Medullary nephrocalcinosis, Genu v...	OMIM:613312
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Macrodactyly, Venous malformation, Lymphedema	OMIM:613089
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:424
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multipl...	OMIM:620189
Familial Cerebral Cavernous Malformation	Retinal cavernous angioma, Cerebral hemorrhage, Neuroma, Choroidal hemangioma, Meningioma, Scolio...	ORPHA:221061
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid ca...	OMIM:300952
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Varicose Veins	Varicose veins	OMIM:192200
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith...	ORPHA:18
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna...	OMIM:601346
Watson Syndrome	Posteriorly rotated ears, Neurofibroma, Pectus carinatum, Lisch nodules, Low-set ears, Pulmonic s...	OMIM:193520
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth...	OMIM:166220
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Retinal detachment, Decreased fetal movement, Inguinal hernia, Conge...	OMIM:225400
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Pneumonia, Pedal edema, Right ventricular dilatation, Stroke, Abnormal...	ORPHA:99103
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Abnormal rib morphology, Cleft pal...	ORPHA:1300
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Pyknoachondrogenesis	Palpebral edema, Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphol...	ORPHA:3003
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Abnormal digit morphology, Arteriovenous malformatio...	ORPHA:83454
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Scoliosis, Pulmonic stenosis, Protruding tongue	OMIM:614325
Cowden Syndrome 7	Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He...	OMIM:616858
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, F...	ORPHA:2908
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Neurogenic bladder, Myelomeningocele,...	OMIM:600145
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyr...	ORPHA:449432
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Chronic Thromboembolic Pulmonary Hypertension	Edema, Right ventricular dilatation, Inflammation of the large intestine, Neoplasm, Myeloprolifer...	ORPHA:70591
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Otosclerosis 10	Otosclerosis	OMIM:615589
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion...	OMIM:167800
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Bifid uvula, Cerebellar dysplasia	OMIM:601374

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 H13

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 H13.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	H13^{tm1b(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	H13^{tm1b(KOMP)Wtsi}	PMC7338221
Absence of Signal Peptide Peptidase, an Essential Herpes Simplex Virus 1 Glycoprotein K Binding Partner, Reduces Virus Infectivity In Vivo.	Journal of virology (November 2019)	H13^{tm1a(KOMP)Wtsi}	31511378
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	2810417H13Rik^{tm1a (EUCOMM)Wtsi} H13^{tm1b(KOMP)Wtsi} H13^{tm1b(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	2810417H13Rik^{tm1a(EUCOMM)Wtsi} H13^{tm1b(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	2810417H13Rik^{tm1a (EUCOMM)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	H13^{tm1b(KOMP)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
H13^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
H13^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

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: H13 MGI:95886

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

DSS Histology

Eye Morphology

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by H13 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data