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Gene: H13 MGI:95886

Gene Summary

Name:

histocompatibility 13

Synonyms:

H-13, 1200006O09Rik, Spp, Hm13, 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
decreased fasting circulating glucose level	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	1.57×10^-06
preweaning lethality, complete penetrance	H13^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal snout morphology	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	7.53×10^-05
increased bone mineral content	H13^{tm1b(KOMP)Wtsi}	HET	Early adult	7.93×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Forepaw

15 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

11 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

27 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 (971 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	Hearing impairment, Cryptorchidism, Ventricular septal defect, Tetralogy of Fallot, Low-set, post...	ORPHA:1926
Carpenter Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg...	OMIM:201000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Ventricular septal defe...	ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial...	OMIM:306955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, 11 pair...	OMIM:617877
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At...	OMIM:618316
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Low-set ears, Ventricular septal defect, Low posterior hairline, Atrial se...	OMIM:220210
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Protein-losing enteropathy, Decreased liver function, Ascites, Decreased circulatin...	OMIM:608104
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism...	OMIM:301056
Recombinant Chromosome 8 Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Tetralogy of Fallot, Clinodactyl...	OMIM:179613
Rubinstein-Taybi Syndrome 1	Low-set ears, Facial hypertrichosis, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Fro...	OMIM:180849
Primary Ciliary Dyskinesia	Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Rod...	ORPHA:244
Fetal Trimethadione Syndrome	Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Ventricular septal defect, Transpos...	ORPHA:1913
8P23.1 Microdeletion Syndrome	Low-set ears, Broad thumb, Cryptorchidism, Congenital diaphragmatic hernia, Short neck, High pala...	ORPHA:251071
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Cryptorchidism, Short neck, Anal atresia, Short foo...	ORPHA:709
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Neonatal death, Dextrocardia, Absent radius, Anal atresia, Urethra...	OMIM:314390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Retinal dyspl...	OMIM:253800
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Myelopathy, Cranial nerve compression, Vertigo, Abnormal...	ORPHA:268882
Genitopalatocardiac Syndrome	Low-set ears, Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the grea...	OMIM:231060
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep...	OMIM:620662
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda...	ORPHA:261243
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Low-set ears, Clinodactyly, Cryptorchidism, Patent foramen ovale, Short neck, Coloboma, Transposi...	OMIM:616789
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Chiari malformation, Generalized arterial to...	OMIM:610168
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th...	ORPHA:1727
Alg12-Cdg	Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Cr...	ORPHA:79324
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation,...	OMIM:210710
Sotos Syndrome	Low-set ears, Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Long phal...	OMIM:117550
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cholestas...	OMIM:619503
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Low-set ears, Broad thumb, Ventricular septal defect, Achalasia, Atrial septal defect, Short 5th ...	OMIM:600987
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal...	OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Pectus carinatum, Toe clinodactyly, Secundum atrial septal defect, Aortic root aneu...	OMIM:619910
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorc...	OMIM:312870
Pallister-Hall Syndrome	Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing...	ORPHA:672
Loeys-Dietz Syndrome 1	Low-set ears, Hypoplasia of the musculature, Aortic root aneurysm, Chiari malformation, Mitral va...	OMIM:609192
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo...	ORPHA:138
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Anomalous origin of left coronary artery from ...	OMIM:618845
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Ventricular s...	OMIM:280000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Atri...	ORPHA:371428
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Cerebellar vermis hypoplasia, Sparse eyebrow, Gastroesophageal reflux, Multiple muscular ventricu...	OMIM:620070
Chromosome 9P Deletion Syndrome	Low-set ears, Ventricular septal defect, Short neck, Atrial septal defect, High palate, Hypospadi...	OMIM:158170
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t...	OMIM:618164
Snijders Blok-Campeau Syndrome	Low-set ears, Umbilical hernia, Inguinal hernia, Perimembranous ventricular septal defect, Atrial...	OMIM:618205
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Cryptorchidis...	OMIM:146510
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Sandal gap, Abnormal heart morphology, Decreased nerve conduction velocity, Fo...	ORPHA:477817
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bilateral conductive hearing impairment, Branchial cyst, Atresia of the external au...	OMIM:620186
Charge Syndrome	Low-set ears, Lymphopenia, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impai...	OMIM:214800
Benign Schwannoma	Peripheral schwannoma, Vertigo, Schwannoma, Abnormality of the liver, Abnormal cranial nerve morp...	ORPHA:252164
Ogden Syndrome	Low-set ears, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Pulmonary edema,...	OMIM:300855
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, De...	OMIM:618619
Trisomy 13	Low-set ears, Abnormal helix morphology, Chiari malformation, Abnormality of the ureter, Abnormal...	ORPHA:3378
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Neu-Laxova Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cry...	OMIM:256520
Ververi-Brady Syndrome	Low-set ears, Metaphyseal irregularity, Cupped ear, Transposition of the great arteries, Single u...	OMIM:617982
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Hearing impairment, Finger syndactyly, Single ventricle, 2-5 finger syndact...	OMIM:308050
Restrictive Dermopathy	Thin ribs, Low-set ears, Increased anterioposterior diameter of thorax, Large placenta, Atrial se...	ORPHA:1662
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Cryptorchidism, Protrudi...	ORPHA:3304
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct...	ORPHA:96334
Mosaic Trisomy 16	Short forearm, Hearing impairment, Clinodactyly, Large placenta, Ventricular septal defect, Singl...	ORPHA:1708
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, High anterior hairline, Hearing impairment, Velopharyngeal insufficien...	ORPHA:363444
3C Syndrome	Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Abnormal mitral v...	ORPHA:7
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri...	ORPHA:96148
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a...	ORPHA:2255
Sandestig-Stefanova Syndrome	Low-set ears, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Muscular ventricular se...	OMIM:618804
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Congenital diaphragmatic hernia, Ventric...	OMIM:157800
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula...	OMIM:600001
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur...	ORPHA:226307
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Abnormal c...	ORPHA:2345
Meacham Syndrome	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar...	OMIM:608978
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Chiari malformation, Clinodact...	OMIM:249000
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Low-set ears, Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malr...	OMIM:619657
Thakker-Donnai Syndrome	Tetralogy of Fallot, Communicating hydrocephalus, Congenital diaphragmatic hernia, Ventricular se...	ORPHA:1780
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma...	ORPHA:1900
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys...	OMIM:208530
Heterotaxy, Visceral, 4, Autosomal	Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia...	OMIM:613751
Halperin-Birk Syndrome	Optic atrophy, Gastroesophageal reflux, Semilobar holoprosencephaly, Hearing impairment, Umbilica...	OMIM:618651
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Chiari malformation, Ventricular septal defec...	OMIM:265380
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Oligohydramnios, Cryp...	ORPHA:397590
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Cryptorchidism, Cyclopia, Anal atresia, Thyroid hypoplasia, Holoprosencephaly, Hyp...	ORPHA:2166
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Recurrent otitis media, Dextrotransposition of the great arteries, ...	OMIM:619995
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, A...	ORPHA:1120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Ventricular septal defect, Sensori...	OMIM:301040
Treacher-Collins Syndrome	Abnormal hair morphology, Encephalocele, Cryptorchidism, Absent eyelashes, Abnormality of the mid...	ORPHA:861
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti...	OMIM:619170
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Ductus ...	OMIM:620642
Monosomy 18Q	Aortic valve stenosis, Bilateral conductive hearing impairment, Sensorineural hearing impairment,...	ORPHA:1600
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Cleft soft palate, Ulnar deviation of thumb, ...	OMIM:142900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Unilateral renal agenesis, Hypertrichosis, Muscular ventricular septal defect, Butt...	OMIM:619227
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar...	OMIM:190685
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Dysplastic corpus cal...	OMIM:620135
Fetal Akinesia Deformation Sequence 1	Thin ribs, Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Short neck, High...	OMIM:208150
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:620294
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec...	ORPHA:2970
Carpenter Syndrome 2	Low-set ears, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Sen...	OMIM:614976
Noonan Syndrome	Abnormality of the spleen, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairli...	ORPHA:648
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans...	ORPHA:66634
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Skeletal muscle atrophy, ...	ORPHA:251061
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Horseshoe kidney, Tetralog...	ORPHA:3097
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Precocious puberty, Hypoplasia of the pons, Anteriorly placed anus...	ORPHA:280195
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Chiari malformation, Hearing impairment, Recurrent otitis me...	ORPHA:96170
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Clinodactyly, Small placenta, Congenital sensorineur...	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Overlapping fingers, Protruding tongue, Sensorineural hearing impairment, Short nec...	OMIM:608779
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Congenital diaphragmatic hernia, Sh...	ORPHA:2311
Houge-Janssens Syndrome 3	Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Atrial septal defect, High...	OMIM:618354
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ...	OMIM:618254
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Low-set ears, High anterior hairline, Bifid uvula, Submucous cleft of sof...	OMIM:301022
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Abnor...	ORPHA:439167
Birk-Aharoni Syndrome	Hearing impairment, Muscular ventricular septal defect, Thick eyebrow, Cryptorchidism, Macrocytic...	OMIM:620071
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, ...	OMIM:609029
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota...	ORPHA:3426
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie...	OMIM:115197
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Brittle hair, He...	OMIM:222470
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Viss Syndrome	Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ...	OMIM:619472
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Sensorineural hearing impairment, Bi...	OMIM:612474
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Chime Syndrome	Aplastic clavicle, Abnormality of the outer ear, Acute leukemia, Aplasia/Hypoplasia of the phalan...	ORPHA:3474
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Short neck, Sprengel anomaly, Aplasia of the thymus, Atrial septal defect, Hypopara...	OMIM:618223
Fryns Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Congenital diaphragmatic hernia, Agenesis of corpus...	ORPHA:2059
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Hearing impairment, Hypoplasia of the pons, Overlapping toe, Cryptorchidis...	ORPHA:163956
Giant Cell Arteritis	Optic atrophy, Vasculitis, Alopecia, Conductive hearing impairment, Aortic dissection, Double out...	ORPHA:397
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Premature birth, Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Abnor...	ORPHA:3268
Vater/Vacterl Association	Abnormal vertebral morphology, Occipital encephalocele, Ventricular septal defect, Radioulnar syn...	OMIM:192350
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Clinodactyly o...	ORPHA:3047
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:270100
Microphthalmia, Syndromic 2	Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Sensorin...	OMIM:300166
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Apert Syndrome	Optic atrophy, Bifid uvula, Toe syndactyly, Conductive hearing impairment, Chiari malformation, F...	ORPHA:87
Phace Syndrome	Retinal vascular malformation, Iris coloboma, Ectopic thyroid, Aortic root aneurysm, Abnormal ste...	ORPHA:42775
Renpenning Syndrome	High, narrow palate, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Skeletal muscle atro...	ORPHA:3242
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnormal aortic morphol...	ORPHA:1166
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnorma...	ORPHA:1354
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Hearing impairment, Sandal gap, Decreased nerve conduction velocity, Ventri...	OMIM:616652
Feingold Syndrome Type 1	Toe syndactyly, Multiple muscular ventricular septal defects, Sensorineural hearing impairment, A...	ORPHA:391641
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Neoplasm, Abnormal glossopharyn...	ORPHA:221098
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Small hand, Lateral ventricle dilatation, Mitral valve prolapse, Sparse eyelashes, ...	OMIM:612863
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Holoprosencephaly 13, X-Linked	Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Ventricular s...	OMIM:301043
Wrinkly Skin Syndrome	Low-set ears, Sparse hair, Hypoplasia of the musculature, Short nail, Premature rupture of membra...	OMIM:278250
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Neonatal death, Short neck, Short ...	OMIM:269860
Congenital Gerbode Defect	Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P...	ORPHA:99095
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Frank-Ter Haar Syndrome	Low-set ears, Anterior concavity of thoracic vertebrae, Mitral valve prolapse, Ventricular septal...	OMIM:249420
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Aortic valve stenosis, Absent gallbladder, Ventricular septal defe...	ORPHA:210122
Degcags Syndrome	Chronic kidney disease, Low-set ears, Toe syndactyly, Hearing impairment, Oral-pharyngeal dysphag...	OMIM:619488
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Shor...	ORPHA:567
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Toe syndactyly, Cryptor...	ORPHA:261344
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, High anterior hairline, Muscular ventricular septal defect, Brachydactyly, Adducted...	OMIM:620062
Holoprosencephaly	Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Abnormal antihelix morphology, ...	ORPHA:2162
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Neutropenia, Diaphyseal undertubulation, Hepato...	ORPHA:175
Holt-Oram Syndrome	Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal...	ORPHA:392
Hypothyroidism Due To Tsh Receptor Mutations	Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, Ed...	ORPHA:90673
Alg3-Cdg	Hearing impairment, Cardiomyopathy, Decreased liver function, Abnormal uvula morphology, Hypoplas...	ORPHA:79321
Doors Syndrome	Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Adrenal hyperplasia, ...	ORPHA:79500
Beckwith-Wiedemann Syndrome	Nephropathy, Subchorionic septal cyst, Chiari malformation, Hearing impairment, Abnormal earlobe ...	ORPHA:116
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Jacobsen Syndrome	Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd...	ORPHA:2308
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura...	ORPHA:217085
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Facial edema, Abnormal epiphysis mo...	ORPHA:90674
Robinow Syndrome	Low-set ears, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism, Ventricular septal def...	ORPHA:97360
Vacterl/Vater Association	Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Cryptorchidism, Congeni...	ORPHA:887
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Frontonasal Dysplasia 1	Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm...	OMIM:136760
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Congenital hypothyroidism, Vertebrobasilar dolichoectasia, Nephrolithiasis, Retinal detachment, L...	ORPHA:521445
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def...	ORPHA:79345
Proteus Syndrome	Venous malformation, Splenomegaly, Kyphoscoliosis, Hemangioma, Multiple lipomas, Lipoma, Spinal c...	OMIM:176920
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura...	ORPHA:217093
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Abnormality of the autonomic ...	OMIM:611376
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus...	ORPHA:1457
Noonan Syndrome 12	Chiari malformation, Glabellar hemangioma, Anteriorly placed anus, Tetralogy of Fallot, Decreased...	OMIM:618624
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c...	OMIM:605376
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm...	ORPHA:3427
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocard...	OMIM:617577
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Low-set ears, Joint contracture of the hand, Genu valgum, Cryptorchidism, Mitral valve...	OMIM:182212
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnorma...	ORPHA:52
Fumarase Deficiency	Aminoaciduria, Optic atrophy, Elevated urine fumaric acid level, Cutaneous leiomyoma, Intrahepati...	OMIM:606812
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Sparse scalp hair, Hearing im...	ORPHA:536471
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Hearing impairment, Finger syndactyly, Cryptorchidism, Abnormal gastrointestinal tr...	ORPHA:2990
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impair...	OMIM:253010
Wolcott-Rallison Syndrome	Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepati...	ORPHA:1667
Restrictive Dermopathy 1	Low-set ears, Increased anterioposterior diameter of thorax, Sparse eyelashes, Absent eyelashes, ...	OMIM:275210
Congenital Syphilis	Pneumonia, Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, L...	ORPHA:499009
Phace Association	Optic atrophy, Cavernous hemangioma of the face, Arterial stenosis, Congenital hypothyroidism, Ve...	OMIM:606519
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Sensorineural hearing impairment, Hepatomegaly, Abnormal heart ...	ORPHA:580
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma...	ORPHA:97290
Distal Deletion 15Q	Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Genu valgum, Cryptorc...	ORPHA:1596
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Facial capillary hem...	ORPHA:818
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ...	ORPHA:264450
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Highly arched eyebrow, Sandal gap, Tetralogy of Fallot, Nail dystrophy, ...	OMIM:300887
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Peripher...	OMIM:156530
Toriello-Carey Syndrome	Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Agenesis of corpus callosum, Shor...	ORPHA:3338
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Facial edema, Abnormal epiphysis morpho...	ORPHA:95716
Mucopolysaccharidosis Type 3	Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum, Abnor...	ORPHA:581
10Q22.3Q23.3 Microduplication Syndrome	Low-set ears, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospa...	ORPHA:276422
De Barsy Syndrome	Low-set ears, Prominent veins on trunk, Decreased muscle mass, Cryptorchidism, Ventricular septal...	ORPHA:2962
Lethal Congenital Contracture Syndrome 10	Low-set ears, Increased variability in muscle fiber diameter, Overlapping fingers, Ventricular se...	OMIM:617022
Osteogenesis Imperfecta	Thin ribs, Aortic root aneurysm, Hearing impairment, Abnormal tibia morphology, Enlarged vertebra...	ORPHA:666
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ...	ORPHA:319487
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Sensorineural hearing impairment, Arachnodactyly, Atrial...	ORPHA:314588
Mosaic Trisomy 9	Low-set ears, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal defect, Short neck, ...	ORPHA:99776
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Chiari type II malformation, Bell-shaped thorax, Short...	OMIM:613686
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Sparse scalp hair, Increased circulating prolactin concentration, Recurrent otitis ...	ORPHA:3455
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Fin...	ORPHA:1507
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Myopathy, Sensorineural hearing impairment, Generalize...	ORPHA:1606
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves...	OMIM:113650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Low-set ears, Narrow chest, Abnormal clavicle morphology, Abnormal epiphysis morph...	ORPHA:93267
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,...	ORPHA:508488
Dextrocardia	Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Meckel diverti...	ORPHA:1666
Parkes Weber Syndrome	Myelopathy, Urinary retention, Arteriovenous malformation, Vascular tortuosity, Lower limb muscle...	ORPHA:90307
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,...	ORPHA:798
Joubert Syndrome 15	Nephronophthisis, Preaxial polydactyly, Retinopathy, Exencephaly, Coloboma, Micropenis, Retinal d...	OMIM:614464
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti...	ORPHA:254534
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop...	OMIM:620654
Hadziselimovic Syndrome	Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal ...	OMIM:612946
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Edema, Ascites, Microcytic anemia, Abnormal tricuspid valve morpholo...	ORPHA:90308
Lateral Meningocele Syndrome	Low-set ears, Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Bicuspid aortic v...	OMIM:130720
Kagami-Ogata Syndrome	Thin ribs, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Lon...	OMIM:608149
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, High palate, Ventric...	OMIM:620511
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Sensorineural hearing impairmen...	OMIM:612582
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Ventr...	OMIM:300373
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept...	ORPHA:363958
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis...	OMIM:620570
Pseudotrisomy 13 Syndrome	Low-set ears, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Ventricular septal defec...	OMIM:264480
Craniodiaphyseal Dysplasia	Optic atrophy, Conductive hearing impairment, Stenosis of the external auditory canal, Diaphyseal...	ORPHA:1513
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Um...	ORPHA:1488
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Sensorineural hearing impairment...	ORPHA:2790
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Overlapp...	ORPHA:83617
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Anencephaly, Transposition of the great arteries, Hydrocephalus,...	OMIM:313850
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Low posterior hair...	OMIM:617506
8P23.1 Duplication Syndrome	Highly arched eyebrow, Toe syndactyly, Hearing impairment, Tetralogy of Fallot, Adrenal insuffici...	ORPHA:251076
Tick-Borne Encephalitis	Abnormal medulla oblongata morphology, Elevated circulating hepatic transaminase concentration, S...	ORPHA:297
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidism, Anomalous origin o...	ORPHA:2326
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous syndactyly, Muscula...	OMIM:618569
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A...	ORPHA:99050
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Hearing impairment, Cryptorchidism, Bowing of the long bones, Abn...	ORPHA:628
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Hearing impairment, Chorioretinal coloboma, Abnormal heart morphology, V...	ORPHA:284169
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Facial capi...	OMIM:274000
Takenouchi-Kosaki Syndrome	Low-set ears, Clinodactyly, Overlapping toe, Cryptorchidism, Sensorineural hearing impairment, Hy...	OMIM:616737
Axial Mesodermal Dysplasia Spectrum	Abnormality of the ureter, Abnormality of the spleen, Congenital diaphragmatic hernia, Abnormal g...	ORPHA:1834
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal autono...	ORPHA:83601
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Shor...	OMIM:253000
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicuspi...	ORPHA:453499
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Aortic root aneurysm, Hearing impairment, Lateral ventricle dilatation, Abnormality...	OMIM:607872
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Hearing impairment, Fi...	ORPHA:84
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Prominent veins on trunk, Cryptorchidism, Mitral valve prolapse, Arachnodac...	ORPHA:536532
Diets-Jongmans Syndrome	Hearing impairment, Umbilical hernia, Long ear, Cryptorchidism, Heterotaxy, Ventricular septal de...	OMIM:618846
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Broad thumb, Overlapping toe, Ventricular septal defect, Sensorineu...	ORPHA:435638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Large fleshy ears, Decreased fibular diameter, Ventricular septal defect, Short nec...	OMIM:616897
Criss-Cross Heart	Abnormal thorax morphology, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal...	ORPHA:1461
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Hearing impairment, Cryptorchidism, Congenital diaphragmatic herni...	ORPHA:280
Mosaic Trisomy 14	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Cryptorchidism, High pa...	ORPHA:1703
Cat Eye Syndrome	Low-set ears, Hearing impairment, Chorioretinal coloboma, Ventricular septal defect, Atrial septa...	OMIM:115470
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Hypoplastic iliac wing, En...	OMIM:139210
Duane-Radial Ray Syndrome	Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ...	OMIM:607323
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Urinary glycosami...	OMIM:253220
Tarp Syndrome	Low-set ears, Clinodactyly, Neonatal death, Atrial septal defect, High palate, Premature rupture ...	OMIM:311900
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Abnormal mitral valve morphology, Mitral valve prolapse, Sensorineural hearing im...	ORPHA:500
Maternal Phenylketonuria	Hypoplastic left heart, Hypoplastic helices, Clinodactyly, Abnormal heart morphology, Tetralogy o...	ORPHA:2209
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Low-set ears, Delayed epiphyseal ossification, Narrow chest, Metaphyseal cupping, Dysplastic sacr...	OMIM:613320
Kagami-Ogata Syndrome	Thoracic hypoplasia, Premature birth, Bell-shaped thorax, Large placenta, Polyhydramnios, Diastas...	ORPHA:254519
Femoral-Facial Syndrome	Low-set ears, Toe syndactyly, Encephalocele, Cryptorchidism, Ventricular septal defect, Agenesis ...	OMIM:134780
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Hypoplastic anterior commissure, Hypoplasia of the pons, Cryptorchidism, Ventricula...	OMIM:616975
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial...	OMIM:613426
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Tarp Syndrome	Hearing impairment, Extramedullary hematopoiesis, Finger syndactyly, Clinodactyly, Abnormal antih...	ORPHA:2886
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Rod-cone dystr...	ORPHA:168549
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Hearing impairment, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, M...	OMIM:612541
Van Esch-O'Driscoll Syndrome	Bifid uvula, Cerebellar atrophy, Clinodactyly of the 5th finger, Ventricular septal defect, Protr...	OMIM:301030
Kaposi Sarcoma	Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous ins...	ORPHA:33276
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatatio...	OMIM:611209
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Peripheral demyelination, Hepatosplenomegaly, White forelock, Cryptorchidism,...	OMIM:609136
Pagod Syndrome	Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,...	ORPHA:991
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ...	ORPHA:209905
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Bifid uvula, Hearing impairment, Dysplastic pulmonary valve, Scoliosis, Cleft...	OMIM:300958
Poland Syndrome	Abnormality of the outer ear, Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia...	ORPHA:2911
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Abnormal helix morphology, Toe syndactyly, Finger syndactyly, Broad...	ORPHA:373
Koolen-De Vries Syndrome	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:610443
Bohring-Opitz Syndrome	Low-set ears, Supernumerary nipple, Overlapping toe, Bilateral cleft palate, Ventricular septal d...	OMIM:605039
Fibrochondrogenesis 1	Thin ribs, Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad l...	OMIM:228520
Perlman Syndrome	Low-set ears, High, narrow palate, Abnormal pancreas morphology, Capillary hemangioma, Hyperinsul...	ORPHA:2849
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Horseshoe kidney, Cryptorchidism, Inguinal hernia, Ventricular septal def...	ORPHA:166035
Noonan Syndrome 8	Low-set ears, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pleural effusion, Cryptor...	OMIM:615355
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Broad long bones, Encephalocele, Cryptorchidism, Short neck, Hypoplastic ischia, Hy...	ORPHA:1865
Familial Multiple Nevi Flammei	Arteriovenous malformation, Abnormal cranial nerve morphology, Venous insufficiency, Intracranial...	ORPHA:624
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Chiari malformation, Hearing impairment, Cryptorchidism, Ventricular septal defect,...	OMIM:617159
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r...	ORPHA:254528
Trisomy 18	Chiari malformation, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, ...	ORPHA:3380
Fanconi Anemia, Complementation Group B	Abnormal vertebral morphology, Low-set ears, Aplastic anemia, Ventricular septal defect, Short ne...	OMIM:300514
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Hearing impairment,...	OMIM:222600
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Sit...	ORPHA:1908
Gillessen-Kaesbach-Nishimura Syndrome	Low-set ears, Periportal fibrosis, Frontotemporal hypertrichosis, Large fleshy ears, Abnormal hea...	OMIM:263210
Cowden Syndrome 1	Hearing impairment, Lymphopenia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Goiter, H...	OMIM:158350
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Cherry red spot of the macula, Aspiration pneumonia, Hepatosple...	ORPHA:79255
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hearing impairment, Hypoplastic iliac w...	OMIM:253200
Holoprosencephaly 14	Low-set ears, Alobar holoprosencephaly, Cerebellar atrophy, Cyclopia, Ventricular septal defect, ...	OMIM:619895
Fryns Syndrome	Thin ribs, Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism...	OMIM:229850
Hurler Syndrome	Abnormal vertebral morphology, Hearing impairment, Endocardial fibroelastosis, Generalized hirsut...	ORPHA:93473
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Rib exostoses, Hearing impairment, Recurrent otitis media, Lumbar scoliosis, Bicusp...	OMIM:150230
Microphthalmia, Syndromic 9	Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Neonata...	OMIM:601186
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Limb muscle weakness, Myopathy, Peripheral axonal neuropathy, Hypomimic face,...	ORPHA:254892
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,...	ORPHA:90652
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim...	ORPHA:226313
Tetrasomy 15Q26	Low-set ears, Cupped ear, Horseshoe kidney, Kyphoscoliosis, Hydronephrosis, Arachnodactyly, Atria...	OMIM:614846
Orofaciodigital Syndrome V	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d...	OMIM:174300
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Fetal distress, Bell-shaped thor...	OMIM:614857
Alagille Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Macrotia, ...	OMIM:118450
Femoral-Facial Syndrome	Low-set ears, Aplasia/Hypoplasia of the tibia, Cryptorchidism, Radioulnar synostosis, Sprengel an...	ORPHA:1988
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Cerebellar atrophy, Sparse lateral eyebrow, Horseshoe kidney, Vesicoureteral reflux...	OMIM:619103
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Overlapping toe, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, ...	OMIM:619148
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda...	ORPHA:1106
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Elevated circulating parathyroid hormone level, Hearing impairment, Facial diplegi...	OMIM:122860
Noonan Syndrome 2	Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hai...	OMIM:605275
Microphthalmia, Syndromic 3	Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defect, Sensorineural hearing imp...	OMIM:206900
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Ventricular septal defect,...	ORPHA:99125
Opitz Gbbb Syndrome	Low-set ears, Aortic root aneurysm, Hearing impairment, Ankyloglossia, Cryptorchidism, Congenital...	ORPHA:2745
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Torticollis, Abnormal 3rd fing...	OMIM:249670
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Low-set ears, Hypoplastic scapulae, Elevated circulating luteinizi...	ORPHA:95699
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Low-set ears, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Fl...	OMIM:300232
Stuve-Wiedemann Syndrome 1	Thin ribs, Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short ne...	OMIM:601559
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal hair ...	ORPHA:3082
Zttk Syndrome	Low-set ears, Small hand, Absent gallbladder, Ventricular septal defect, Breech presentation, Atr...	OMIM:617140
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Low posterior hairli...	OMIM:213980
Adams-Oliver Syndrome	Arteriovenous malformation, Finger syndactyly, Encephalocele, Congenital hepatic fibrosis, Cirrho...	ORPHA:974
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Down Syndrome	Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk...	ORPHA:870
Cowden Syndrome 5	Thyroid adenoma, Colonic diverticula, Hearing impairment, Subcutaneous lipoma, Goiter, Meningioma...	OMIM:615108
Cowden Syndrome 6	Hearing impairment, Ovarian cyst, High palate, Thyroid adenoma, Goiter, Hypothyroidism, Hyperthyr...	OMIM:615109
Aspergillosis	Pneumonia, Abnormality of the vertebral column, Hepatitis, Pleural effusion, Abnormal long bone m...	ORPHA:1163
Maffucci Syndrome	Pituitary adenoma, Multiple enchondromatosis, Goiter, Neoplasm of the parathyroid gland, Breast c...	ORPHA:163634
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Highly arched eyebrow, Hematochezia, Dilation of Virchow-R...	ORPHA:261311
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Abnormal lung lobation, Aplasia/Hypop...	ORPHA:3301
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab...	ORPHA:2306
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, White forel...	ORPHA:2475
Diamond-Blackfan Anemia 7	Hearing impairment, Atresia of the external auditory canal, Recurrent otitis media, Esophagitis, ...	OMIM:612562
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Bell-shaped thorax, Encephalocele, Cryptorchidism, Anal atresia, Flat acetabular roo...	OMIM:616300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Short tibia, Absent gallbladder, Neonatal death, Low posterior hairline, Short neck...	OMIM:617925
Noonan Syndrome 10	Low-set ears, Pectus carinatum, Sparse eyebrow, Hypertrophic cardiomyopathy, Increased nuchal tra...	OMIM:616564
Marfanoid Habitus With Situs Inversus	Pectus carinatum, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Arachnodac...	OMIM:609008
Jacobsen Syndrome	Low-set ears, Chorioretinal coloboma, Cryptorchidism, Ventricular septal defect, Short neck, Atri...	OMIM:147791
Hyperparathyroidism, Transient Neonatal	Thin ribs, Low-set ears, Fractured rib, Ovarian cyst, Patent ductus arteriosus, Gastroesophageal ...	OMIM:618188
Alg9-Cdg	Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Ventricular septal defect, Low po...	ORPHA:79328
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb...	ORPHA:457395
Cantú Syndrome	Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten...	ORPHA:1517
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Velopharyngeal insufficienc...	OMIM:154400
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Sensorineural hearing i...	OMIM:203800
Lymphatic Malformation 6	Hearing impairment, Atrial septal defect, Periorbital edema, Abnormal pinna morphology, Gastroeso...	OMIM:616843
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Increased vertebral height, Horizontal ri...	ORPHA:2616
Distal Deletion 12Q	Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Shor...	ORPHA:96149
Proteus Syndrome	Low-set ears, Rib exostoses, Pulmonary cyst, Arteriovenous malformation, Finger syndactyly, Decre...	ORPHA:744
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ...	OMIM:619656
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral...	OMIM:602782
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Abnormal sternum morphology, Camp...	ORPHA:96167
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Low-set ears, High, narrow palate, Gastroesophageal reflux, Cerebellar v...	OMIM:616920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal def...	ORPHA:2772
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Tetralogy of Fallot, ...	ORPHA:1335
Jeune Syndrome	Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal...	ORPHA:474
Capillary Malformation-Arteriovenous Malformation	Arteriovenous malformation, Chylothorax, Lymphedema, Abnormal heart morphology, Facial capillary ...	ORPHA:137667
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Waardenburg Syndrome, Type 2E	Hypopigmentation of the fundus, Premature graying of hair, Ocular albinism, Aplasia of the semici...	OMIM:611584
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Tongue atrophy, Distal amyotrophy, De...	OMIM:601596
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Cryptorchidism, Agenesis of corpus callosum, Short neck, Dextrocardia, Hip dislo...	ORPHA:96092
Enlarged Parietal Foramina	Broad thumb, Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral ve...	ORPHA:60015
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Umbilical hernia, ...	OMIM:252900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Pectus carinatum, Skeletal muscle atrophy, Abnormal muscle fiber morphology, Sparse body hair, Ab...	ORPHA:3068
Campomelic Dysplasia	Thin ribs, Low-set ears, Hypoplastic scapulae, Delayed epiphyseal ossification, Hypoplastic cervi...	OMIM:114290
Kleefstra Syndrome	Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Agenesis of ...	ORPHA:261494
Autosomal Dominant Spastic Paraplegia Type 10	Hearing impairment, Lower limb muscle weakness, Leg muscle stiffness, Distal lower limb amyotroph...	ORPHA:100991
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Cholestasis, Bell-shaped thorax, Genu valgum, Ventricular septal defect, ...	OMIM:615630
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic valve, Short digit, Clinoda...	ORPHA:228190
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Alopecia of scalp, Abnormal aortic valve m...	OMIM:615280
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve, Eosinophilic ...	OMIM:614816
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va...	OMIM:604381
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Chiari malformation, Hearing impairment, Chorioret...	ORPHA:857
Achondrogenesis Type 1B	Narrow chest, Short thorax, Thickened nuchal skin fold, Umbilical hernia, Short neck, Short foot,...	ORPHA:93298
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Schwartz-Jampel Syndrome	Abnormality of the ureter, Genu valgum, Myopathy, Hip contracture, Generalized hirsutism, Bowing ...	ORPHA:800
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Gastroesophageal reflux, Hearing impairment, Clinodactyly of the 5th finger,...	OMIM:619149
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Absent eyelashes, Low posterior hairline, Short neck, Periphera...	OMIM:115150
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Low-set ears, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature c...	OMIM:300845
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Cardiofaciocutaneous Syndrome	Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Atrial septal defect, Brittle ha...	ORPHA:1340
Aicardi Syndrome	Dilated third ventricle, Chiari malformation, Lateral ventricle dilatation, Metastatic angiosarco...	OMIM:304050
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Hearing impairment, Macrotia, Hypertrophic cardiomyopathy, Low-set, posteriorl...	ORPHA:2701
Williams Syndrome	Chiari malformation, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolaps...	ORPHA:904
Mccune-Albright Syndrome	Renal phosphate wasting, Hearing impairment, Increased circulating prolactin concentration, Incre...	ORPHA:562
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Sarcosinemia	Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Infantile sensorineural hea...	ORPHA:3129
Bilateral Polymicrogyria	Low-set ears, Central hypothyroidism, Cerebellar atrophy, Pseudobulbar paralysis, Facial diplegia...	ORPHA:268940
1Q21.1 Microdeletion Syndrome	Toe syndactyly, Broad thumb, Ankyloglossia, Cryptorchidism, Sensorineural hearing impairment, Age...	ORPHA:250989
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t...	OMIM:615067
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Highly arched eyebrow, Hearing impairment, Tetralogy of Fallot, Vesicouret...	ORPHA:96147
Foix-Alajouanine Syndrome	Cervical myelopathy, Myelopathy, Urinary retention, Functional abnormality of the bladder, Lower ...	ORPHA:79093
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sensorin...	ORPHA:2072
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutaneous finger syndactyly, Cryptorchidism, Humeroradial synostosis, Sens...	OMIM:151050
Cornelia De Lange Syndrome 1	Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Sensori...	OMIM:122470
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased interverteb...	OMIM:618961
Juvenile Polyposis Syndrome	Low-set ears, Arteriovenous malformation, Clubbing of fingers, Stomach cancer, Juvenile gastroint...	ORPHA:2929
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial...	OMIM:263520
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Thoracic scoliosis,...	OMIM:603387
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo...	OMIM:614701
Costello Syndrome	Low-set ears, Enlarged cerebellum, Barrel-shaped chest, Ventricular septal defect, Mitral valve p...	OMIM:218040
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural ...	OMIM:617137
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Sensorineural hearing impairment, Absent e...	ORPHA:544488
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Broad thumb, Hypoplastic iliac win...	OMIM:609945
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact...	OMIM:268310
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter, Umbilical hernia	OMIM:274400
Esophageal Atresia	Abnormal vertebral morphology, Hearing impairment, Clinodactyly, Esophagitis, Abnormal gastrointe...	ORPHA:1199
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, High palate, Short...	OMIM:608328
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Sens...	ORPHA:500095
Peters-Plus Syndrome	Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Cryptorchidism, Vent...	OMIM:261540
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Advanced ossification of carpal bones, Thoracic hypoplasia, Hearing impairment, Short femoral nec...	OMIM:618363
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Cupped ear, Lateral ventricle dilatation, Sandal gap, Umbilical hernia, Joint c...	OMIM:618914
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Situs inversus totalis, Otitis media, Heterotaxy, Chronic bronc...	OMIM:613807
Melnick-Needles Syndrome	Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Hearing impairment, Co...	ORPHA:2484
Severe Congenital Nemaline Myopathy	Thin ribs, Low-set ears, Breech presentation, Micropenis, Abnormality of the diaphragm, Dysphagia...	ORPHA:171430
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def...	OMIM:617205
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Hearing impairment, Melanoma, Adenoma sebaceu...	ORPHA:201
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Exostosis of the external auditory canal, Cryptorchidism, Congenital diaphragmatic ...	OMIM:265000
Menkes Disease	Narrow chest, Gastrointestinal hemorrhage, Umbilical hernia, Arterial stenosis, Tarsal synostosis...	ORPHA:565
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Sensorineural hearing impairment, Aplasia/Hypopl...	ORPHA:3320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, Iris coloboma, Hearing impairment, 11 pairs of ribs, Cryptorchidis...	ORPHA:77298
Autosomal Dominant Spondylocostal Dysostosis	Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Cleft palate, H...	ORPHA:1797
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Cat-Eye Syndrome	Hearing impairment, Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Anal atresia...	ORPHA:195
Kapur-Toriello Syndrome	Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Tetralogy ...	ORPHA:2328
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Cryptorchidism, Congenital dia...	OMIM:135900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad thumb, Chiari malformation, Cryptorchidism, Ventricular septal defec...	ORPHA:353281
Monosomy 9Q22.3	Low-set ears, Chiari malformation, Abnormality of the vertebral column, Umbilical hernia, Retinop...	ORPHA:77301
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Epiph...	OMIM:274300
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste...	OMIM:614300
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media, Heterotaxy	OMIM:618781
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Pectus carinatum, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac...	OMIM:271530
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear...	OMIM:230500
Atelosteogenesis Type I	Platyspondyly, Low-set ears, Narrow chest, Pulmonary hypoplasia, Short femur, Thoracic hypoplasia...	ORPHA:1190
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas...	OMIM:218700
Acrocardiofacial Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Abnor...	ORPHA:2008
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Alopecia, Congenital hip dislocation, Hearing impairment, Finger ...	ORPHA:1647
Pendred Syndrome	Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin...	OMIM:274600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala...	ORPHA:2256
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Ulnar deviation of the 2nd finger, Sensorineural hearing impairmen...	ORPHA:456312
Cerebrocostomandibular Syndrome	Low-set ears, Bell-shaped thorax, Cleft soft palate, Ventricular septal defect, Short hard palate...	OMIM:117650
Kabuki Syndrome 2	Low-set ears, Hearing impairment, Recurrent otitis media, Atrial septal defect, High palate, Hip ...	OMIM:300867
Cleidocranial Dysplasia	Hypoplastic scapulae, Hearing impairment, Genu valgum, Abnormal metacarpal morphology, Hypoplasti...	ORPHA:1452
Alpha-Mannosidosis, Infantile Form	Chiari malformation, Hepatosplenomegaly, Pancytopenia, Genu valgum, Myopathy, Sensorineural heari...	ORPHA:309282
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Clinodacty...	ORPHA:2759
Pseudo-Torch Syndrome 2	Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect...	OMIM:617397
Cranioectodermal Dysplasia 2	Low-set ears, Clinodactyly, Cholestasis, Sparse eyelashes, Short neck, Atrial septal defect, Hepa...	OMIM:613610
Bohring-Opitz Syndrome	Agenesis of corpus callosum, Bilateral wrist flexion contracture, Cholelithiasis, Annular pancrea...	ORPHA:97297
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola...	ORPHA:97289
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Broad thumb, Chiari malformation, Cryptorchidism, Ventricula...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Broad thumb, Chiari malformation, Cryptorchidism, Ventricula...	ORPHA:353277
Occipital Horn Syndrome	Cholestasis, Humerus varus, Esophagitis, Genu valgum, Abnormal fibula morphology, Jaundice, Dysph...	ORPHA:198
Warsaw Breakage Syndrome	Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defe...	OMIM:613398
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Ventricul...	OMIM:301068
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Hearing impairment, Optic nerve compression, Abnorma...	ORPHA:667
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Bilateral conductive hearing impairment, Hearing impairment, Abnormal morphology of t...	ORPHA:488642
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Chiari malformation, Hearing impairment, Lateral ventricle dilatation, Absent gallb...	ORPHA:500150
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Venous malformation, Aplasia/hypoplasia involving bones of the upper limb...	ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Chiari malformation, Elbow contracture, Irregular epiphyses, Clinodactyly of th...	OMIM:618162
Thyrocerebrorenal Syndrome	Nephritis, Euthyroid goiter, Renal insufficiency, Sensorineural hearing impairment, Abnormality o...	ORPHA:3327
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Inter...	ORPHA:1145
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Noonan Syndrome 7	Low-set ears, Pectus carinatum, Hypertrophic cardiomyopathy, Large earlobe, Low posterior hairlin...	OMIM:613706
Microform Holoprosencephaly	Iris coloboma, Duodenal atresia, Cyclopia, Tetralogy of Fallot, Panhypopituitarism, Agenesis of c...	ORPHA:280200
Acitretin/Etretinate Embryopathy	Cupped ear, Premature birth, Abnormality of the calcaneus, Atrioventricular canal defect, Conotru...	ORPHA:40366
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Hearing impairment, Cryptorchidism, Ventricular septal defect, Bicusp...	OMIM:610759
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Ovo...	OMIM:608940
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Low-set ears, Generalized edema, Tetralogy of Fallot, Overlapping toe, R...	OMIM:617478
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pectus carinatum, Hearing impairment, Abnormal sternum morphology, Abnormal pulmonary valve morph...	ORPHA:137634
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Cryptorchidism, Arachnodactyly, Ulnar deviation of finger, Amniotic constricti...	ORPHA:2215
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Basal cell carcinoma, I...	OMIM:109400
Achondrogenesis Type 1A	Narrow chest, Thickened nuchal skin fold, Umbilical hernia, Multiple rib fractures, Short neck, S...	ORPHA:93299
Nestor-Guillermo Progeria Syndrome	Thin ribs, Alopecia, Sparse eyebrow, Sparse scalp hair, Atherosclerosis, Decreased serum leptin, ...	OMIM:614008
Noonan Syndrome 6	Low-set ears, Edema, Abnormal sternum morphology, Long eyebrows, Hypertrophic cardiomyopathy, Juv...	OMIM:613224
Thanatophoric Dysplasia, Type I	5-minute APGAR score of 1, Neonatal death, Bowing of the long bones, Short neck, Breech presentat...	OMIM:187600
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Congenital hypothyroidism, Cryptor...	ORPHA:2519
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Chiari malformation, Velopharyngeal insufficiency, Enlarged cerebellum...	OMIM:619325
Feingold Syndrome 1	Low-set ears, Hearing impairment, Ventricular septal defect, High palate, Duodenal atresia, Paten...	OMIM:164280
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Abnormal sternum morphology, Hypertrophic c...	OMIM:610733
Mucopolysaccharidosis, Type Iiid	Low-set ears, Epiphyseal dysplasia, Hearing impairment, Recurrent otitis media, Short neck, Ovoid...	OMIM:252940
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Slender long bone, Amniotic const...	ORPHA:1486
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Low-set ears, Broad thumb, Finger syndactyly, Preaxial hand polydactyl...	ORPHA:2211
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
Floating-Harbor Syndrome	Low-set ears, Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior hairline, Short ...	OMIM:136140
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Abnormal epiphysis morphology, Abnormal form of ...	ORPHA:3098
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Congenit...	ORPHA:564
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Neoplasm of the skeletal system, Tracheoesophageal f...	ORPHA:142
Fanconi Anemia, Complementation Group D2	Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Agenesis of corpus callosum, Neut...	OMIM:227646
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Lateral ...	OMIM:619534
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Low-set ears, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovo...	OMIM:151210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Sensorineural hearing impairment, Beaking of vertebral bodies, Retinal de...	OMIM:609616
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Retinal vascular tortuosi...	OMIM:192430
Poland Syndrome	Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ...	OMIM:173800
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy, Goiter, Sensorineural hearing impairment, Thrombocytopenia	OMIM:274240
Kawasaki Disease	Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve...	ORPHA:2331
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Goiter, Puberty and gona...	ORPHA:525731
Mycophenolate Mofetil Embryopathy	Iris coloboma, Bifid thoracic vertebrae, Hearing impairment, Atresia of the external auditory can...	ORPHA:268249
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Eosinophilic infiltration of the esophagus, Reduced...	OMIM:615508
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Arteriovenous malformation, Neoplasm of the breast, Neoplasm of the thyroid gland, Venous insuffi...	ORPHA:137608
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Pulmonary hypoplas...	OMIM:620025
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Unossified sacrum, Hearing impairment, Absent vertebral body mine...	ORPHA:93296
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Craniofacioskeletal Syndrome	Interrupted aortic arch, Small hand, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ven...	OMIM:300712
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Arteriovenous malformation, Low-set, posteriorly rotated ears, A...	ORPHA:1110
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Noonan Syndrome 9	Sparse eyebrow, Hydroureter, Cryptorchidism, Ventricular septal defect, Short neck, Coarctation o...	OMIM:616559
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly, Cryptorchidi...	ORPHA:1131
Hallermann-Streiff Syndrome	Thin ribs, Low-set ears, Chorioretinal coloboma, Cryptorchidism, Sparse eyelashes, High palate, S...	OMIM:234100
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Proximal...	OMIM:162300
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Baller-Gerold Syndrome	Abnormal vertebral morphology, Low-set ears, Chiari malformation, Carpal synostosis, Patellar apl...	OMIM:218600
Proteus-Like Syndrome	Bronchogenic cyst, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma,...	ORPHA:2969
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Glue ear, Cryptorchidism, Abnormal...	ORPHA:3310
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Broad phalanges of the hand, Hearing impairment, Partial fusion of...	OMIM:305620
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Tendon rupture, Hip dislocation, Rec...	ORPHA:285
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive ...	ORPHA:261197
Ivic Syndrome	Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Carpal bone hypoplasia, Radi...	OMIM:147750
Pendred Syndrome	Nephropathy, Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impai...	ORPHA:705
Aicardi Syndrome	Small hand, Chorioretinal coloboma, Multiple lipomas, Hepatoblastoma, Retinal detachment, Precoci...	ORPHA:50
Milroy Disease	Predominantly lower limb lymphedema, Neoplasm of the skin, Abnormal venous morphology, Lymphedema...	ORPHA:79452
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:601927
Williams-Beuren Syndrome	Premature graying of hair, Recurrent otitis media, Mitral valve prolapse, Ventricular septal defe...	OMIM:194050
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormal form of the vertebral bod...	ORPHA:1305
Tyshchenko Syndrome	Low-set ears, High, narrow palate, Narrow chest, Narrow palate, Supernumerary nipple, Cryptorchid...	OMIM:615102
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ve...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked 112	Cryptorchidism, Bicuspid aortic valve, Hypospadias, Ectopic kidney, Gastroesophageal reflux, Abno...	OMIM:301111
Distal Deletion 19P	Alopecia, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly rotated ears, Thi...	ORPHA:96129
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Amyoplasia, Fetal akinesia sequence, Ve...	OMIM:312150
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Abnormal hair whorl, Broad hallux, Clinodactyly of the 5th finger, Ing...	ORPHA:457284
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Inguinal...	OMIM:616028
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Renal hypoplasia, Spinal dysraphism, Sandal gap, Venous malformation, Splenomegaly,...	OMIM:612918
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar...	ORPHA:449400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,...	ORPHA:163979
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Finger syndactyly, Oligohydramnios, Abnormal antihelix morphology, Ap...	ORPHA:2145
Mosaic Variegated Aneuploidy Syndrome 1	Low-set ears, Multicystic kidney dysplasia, Cryptorchidism, Agenesis of corpus callosum, Short ne...	OMIM:257300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ...	OMIM:600791
8P11.2 Deletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Hemolytic anemia, Cryptorchidism, M...	ORPHA:251066
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Abnormal ...	ORPHA:583
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Bifid ureter, Long hallux, Transient neutropenia, Bowing of the legs, Inguinal ...	OMIM:617107
Orofaciodigital Syndrome Xiv	Low-set ears, Occipital encephalocele, Cryptorchidism, Ventricular septal defect, Micropenis, Atr...	OMIM:615948
Livedoid Vasculopathy	Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, ...	ORPHA:542643
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Cryptorc...	OMIM:615633
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Ventricular...	OMIM:188400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Hydrocephalus,...	ORPHA:2180
Multiple Osteochondromas	Rib exostoses, Abnormal tibia morphology, Genu valgum, Intestinal obstruction, Bowing of the long...	ORPHA:321
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormality of the ...	ORPHA:2522
Lethal Kniest-Like Dysplasia	Platyspondyly, Low-set ears, Narrow chest, Hypoplastic ilia, Edema, Flared metaphysis, Broad long...	ORPHA:2347
Becker Nevus Syndrome	Pectus carinatum, Shoulder girdle muscle atrophy, Supernumerary nipple, Abnormal tibia morphology...	ORPHA:64755
Costello Syndrome	Ulnar deviation of finger, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Low-set, posteri...	ORPHA:3071
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Hypertrichosis, He...	OMIM:252930
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Hearing impairment, Abnormal rib ...	ORPHA:582
Sotos Syndrome	Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip...	ORPHA:821
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Iris coloboma, Chorioretinal coloboma, Sensorineural hearing impairment, Agenesis ...	OMIM:615219
17Q24.2 Microdeletion Syndrome	Otosclerosis, Broad thumb, Upper limb undergrowth, Recurrent otitis media, Thick eyebrow, Vesicou...	ORPHA:529962
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impairmen...	OMIM:194190
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Mitral valve prolapse, Pulmonary art...	OMIM:175050
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Low-set ears, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Sh...	OMIM:620369
Campomelia, Cumming Type	Multicystic kidney dysplasia, Clubbing of toes, Lymphedema, Abnormal thorax morphology, Oligohydr...	ORPHA:1318
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Broad long bones, Aplasia/Hypoplasia involving the pelvis, Facial hir...	ORPHA:163654
Kabuki Syndrome 1	Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Lateral ven...	OMIM:147920
Chromosome 1P36 Deletion Syndrome, Proximal	Low-set ears, Dilated cardiomyopathy, Clinodactyly, Coronary artery fistula, Biventricular hypert...	OMIM:619343
Mosaic Trisomy 8	Hearing impairment, Abnormal antihelix morphology, Cryptorchidism, Agenesis of corpus callosum, P...	ORPHA:96061
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Inguinal hernia, Hydronephrosis, Contracture of the proximal interphalangeal jo...	OMIM:620141
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Chiari malformation, Midclavicular aplasia, Chorioretinal coloboma,...	OMIM:305600
Noonan Syndrome 1	Low-set ears, Hearing impairment, Neurofibrosarcoma, Clinodactyly, Cryptorchidism, Ventricular se...	OMIM:163950
17Q11 Microdeletion Syndrome	Low-set ears, Glioma, Neurofibrosarcoma, Abnormal choroid morphology, Brainstem glioma, Brain neo...	ORPHA:97685
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral b...	ORPHA:3258
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurrent otit...	ORPHA:261537
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal sternum morphology, Abnormal heart morphology, Tetralogy of Fallot,...	ORPHA:2847
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ...	ORPHA:261183
Noonan Syndrome 3	Low-set ears, Pectus carinatum, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cr...	OMIM:609942
Neurofibromatosis-Noonan Syndrome	Abnormal helix morphology, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Abnorm...	ORPHA:638
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hypoplastic anterior commissure, Lateral ven...	ORPHA:261552
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, Umbilical hernia, Hirsutism, Attached earlobe, Tapered finger, Hip dyspl...	OMIM:616977
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Thoracic hypoplasia, Cervical spinal canal steno...	ORPHA:15
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal mesentery morphology, Abnormality of the spleen, ...	ORPHA:93941
Aymé-Gripp Syndrome	Low-set ears, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, ...	ORPHA:1272
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Recurrent pharyngitis, Histiocytosis, ...	ORPHA:168569
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Low-set ears, Short finger, Hypoplastic heart, Amyoplasia, Fetal akinesia sequence, Ve...	OMIM:253290
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo...	ORPHA:3186
Coffin-Siris Syndrome	Hearing impairment, Clinodactyly, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect...	ORPHA:1465
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di...	OMIM:613795
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F...	OMIM:610205
Noonan Syndrome 14	Low-set ears, Pectus carinatum, Sparse eyebrow, High, narrow palate, Lateral ventricle dilatation...	OMIM:619745
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Small ...	OMIM:613458
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Preaxial foot polydactyly, Multinodular goiter, Triphalangeal thumb...	ORPHA:2091
Premature Aging Syndrome, Penttinen Type	Thin ribs, Short distal phalanx of finger, Retrocerebellar cyst, Elevated circulating thyroid-sti...	OMIM:601812
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Chorioretinal coloboma, Cryptorchidism, Pseudoepiphyse...	OMIM:107480
Mowat-Wilson Syndrome	Chorioretinal coloboma, Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Ventricular...	OMIM:235730
Thoracic Outlet Syndrome	Varicose veins, Edema, Abnormal rib morphology	ORPHA:97330
Noonan Syndrome 5	Low-set ears, Sparse eyebrow, Abnormal sternum morphology, Fine hair, Hypertrophic cardiomyopathy...	OMIM:611553
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism, Hearing impairment	OMIM:228355
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Conductive hearing impairment, Hearing impairment, Sensorineural heari...	OMIM:118100
Kleefstra Syndrome 1	Gastroesophageal reflux, Hearing impairment, Conotruncal defect, Cryptorchidism, Protruding tongu...	OMIM:610253
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly pla...	ORPHA:2319
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Limb muscle weakness, Shor...	ORPHA:239
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ...	ORPHA:958
Fibrochondrogenesis	Low-set ears, Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:2021
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Coarse hair, Hearing impairment, Heparan sulfate ex...	OMIM:252920
Gorlin Syndrome	Abnormal vertebral morphology, Cryptorchidism, Arachnodactyly, Anterior rib cupping, Basal cell c...	ORPHA:377
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Upper...	ORPHA:93351
Coffin-Siris Syndrome 4	Short 5th finger, Macroglossia, Sparse scalp hair, Hearing impairment, Hypertrichosis, Mitral atr...	OMIM:614609
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Premature rupture of membranes, Slender finger, Aortic dissection, Cerebellar hypoplasia, Vascula...	OMIM:618343
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Narrow chest, Pulmonary hypoplasia, Thoracic hypoplasia, Horizont...	OMIM:617895
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Atrioventricular canal defec...	OMIM:617088
Kyphomelic Dysplasia	Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l...	ORPHA:1801
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma	OMIM:107550
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Ch...	OMIM:164210
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture...	ORPHA:93315
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Cerebellar atrophy, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic co...	OMIM:614833
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Hepatic steatosis, 3-Methylglutaconic aciduria, S...	ORPHA:17
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, Sandwich appearance of ve...	OMIM:620558
Ascher Syndrome	Deviation of finger, Goiter, Upper eyelid edema, Hypothyroidism, High palate	ORPHA:1253
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Renpenning Syndrome 1	Joint contracture of the hand, Hearing impairment, Ventricular septal defect, Atrial septal defec...	OMIM:309500
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Abnormal metacarpal morphology, Pleural empyema, V...	ORPHA:228123
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B...	OMIM:271640
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Peripheral pulmonary artery stenosis, Toe syndactyly, Hydroureter, Valvular pulmona...	OMIM:300707
Meier-Gorlin Syndrome 1	Thin ribs, Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia o...	OMIM:224690
Dysosteosclerosis	Hearing impairment, Increased intervertebral space, Diaphyseal undertubulation, High palate, Irre...	OMIM:224300
Floating-Harbor Syndrome	Low-set ears, Clinodactyly, Cryptorchidism, Short neck, Atrial septal defect, Broad fingertip, Ce...	ORPHA:2044
Thyroid Cancer, Nonmedullary, 4	Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm	OMIM:616534
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Central adrenal insufficiency, Cryptorchidism, Ventricular septal defect, Sensorine...	ORPHA:488632
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Retinal detachment, Elevated...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Genu valgum, Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Ch...	ORPHA:534
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Occipital Horn Syndrome	Genu valgum, High palate, Pectus carinatum, Broad clavicles, Ureteral obstruction, Orthostatic hy...	OMIM:304150
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Vascular granular osmiophilic material deposition, Nonarteritic anterior ischemic optic neuropath...	OMIM:125310
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Enlarged cerebellum,...	ORPHA:2152
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Wiedemann-Rautenstrauch Syndrome	Thin ribs, Low-set ears, Chiari malformation, Clinodactyly, Prominent scalp veins, Cryptorchidism...	OMIM:264090
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Abnormal venous morphology, Abnormal cerebral vascular morpholo...	ORPHA:276280
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c...	OMIM:188570
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Retinal dystrophy, Goiter	OMIM:617175
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Retinopathy, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Atelis Syndrome 2	Low-set ears, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:620185
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bi...	OMIM:184400
Osteogenesis Imperfecta, Type I	Otosclerosis, Hearing impairment, Femoral bowing, Biconcave flattened vertebrae, Mitral valve pro...	OMIM:166200
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph...	ORPHA:568051
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Hearing impairment, Genu valgum, Barrel-shaped ch...	OMIM:143095
Lymphangiectasia, Intestinal	Edema, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Stillbirth, Prominent ...	OMIM:152800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Cryptorchidism, Neonatal death, Bowi...	OMIM:224410
Opsismodysplasia	Renal phosphate wasting, Low-set ears, Hypoplasia of the odontoid process, Bell-shaped thorax, Sh...	OMIM:258480
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio...	OMIM:275000
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Narrow chest, Hepatic fibrosis, Hepa...	OMIM:620454
Achondrogenesis, Type Ia	Low-set ears, Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morp...	OMIM:200600
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Skeletal muscle atrophy, Decreased serum testostero...	ORPHA:168563
Von Willebrand Disease	Gastrointestinal hemorrhage, Deviation of finger, Microcytic anemia, Gastrointestinal angiodyspla...	ORPHA:903
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Bifid uvula, Cerebellar vermis hypoplasia, Prominent antihelix, Secundum a...	OMIM:615802
Cog1-Cdg	Posterior rib gap, Cerebellar vermis hypoplasia, Abnormal macular morphology, Low-set, posteriorl...	ORPHA:263508
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated u...	ORPHA:653
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Axonal degeneration, Gastroin...	ORPHA:88628
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Distichiasis, Varicose veins, Peripheral arterial stenosis, Patent duc...	OMIM:126320
Autosomal Dominant Centronuclear Myopathy	Thin ribs, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscle fibers, P...	ORPHA:169189
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Vent...	ORPHA:2473
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Sparse body hair, Hypogonadism, Decreased testicular size,...	ORPHA:2234
Cornelia De Lange Syndrome 6	Low-set ears, Frontal upsweep of hair, Ventricular septal defect, Arachnodactyly, Macrotia, Pectu...	OMIM:620568
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Diamond-Blackfan Anemia 10	Low-set ears, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hearing impairment, A...	OMIM:613309
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Vertebral segmentation defect, Low posterior hairline, Short neck, Abnormal r...	ORPHA:2578
Legius Syndrome	Hearing impairment, Male urethral meatus stenosis, Abnormal sternum morphology, Acute monocytic l...	ORPHA:137605
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Hematuria, Cirrhosis, Visceral angiomatosis, Retinal telangiectasia, ...	ORPHA:774
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Lethal Congenital Contracture Syndrome 5	Thin ribs, Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhag...	OMIM:615368
Leopard Syndrome 1	Low-set ears, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairment, Aplasia of...	OMIM:151100
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Renal hypoplasia, Anal stenosis, Caudal appendage, Conductive heari...	ORPHA:314679
Myhre Syndrome	Hearing impairment, Cryptorchidism, Hypospadias, Epispadias, Abnormal penis morphology, Precociou...	ORPHA:2588
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Hypoplasia of the musculature, Small hypothenar eminence, Thin m...	ORPHA:2463
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Abnormal mesentery morpholog...	ORPHA:2167
Stüve-Wiedemann Syndrome	Smooth tongue, Camptodactyly of finger, Elbow flexion contracture, Oligohydramnios, Genu valgum, ...	ORPHA:3206
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Eosinophilia, Atrial ...	OMIM:618282
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Intervertebral disk degeneration, Arachnodactyly, High palate, Dilatat...	ORPHA:284984
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
Woolly Hair Nevus	Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Enlarg...	ORPHA:79414
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu...	ORPHA:95494
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Aortic valve stenosis, Irregular acetabular roof, Broad ribs, Thi...	OMIM:619698
Fibrous Dysplasia Of Bone	Hearing impairment, Increased circulating cortisol level, Abnormal tibia morphology, Ovarian cyst...	ORPHA:249
Perlman Syndrome	Interrupted aortic arch, Low-set ears, Distal ileal atresia, Renal hamartoma, Volvulus, Nephrobla...	OMIM:267000
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Metaphyseal spurs...	OMIM:608728
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Abdominal situs inversus, Atrioventricular canal defect, Clinodacty...	OMIM:619123
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Thymic Carcinoma	Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Mediastinal lymphadenopat...	ORPHA:99868
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short 5th finger, Narrow chest, Elevated circulating hepatic transaminase concentratio...	ORPHA:73230
Clapo Syndrome	Macrodactyly, Narrow chest, Lymphedema, Capillary hemangioma, Venous malformation, Ganglioneuroma...	ORPHA:168984
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, High palate, Hypospadias, S...	OMIM:614091
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow chest, Joint contracture of the hand, Broad long bones, Encephalocele, Hirsutism, Short ri...	OMIM:224400
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Yellow nails, Kyphosis, Chylothorax, Lymphedema, Tetralogy o...	OMIM:153400
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Shor...	OMIM:611717
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, Ventricular ...	ORPHA:438213
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Polycystic liver dise...	OMIM:208500
Norrie Disease	Optic atrophy, Abnormal helix morphology, Abnormal chorioretinal morphology, Cryptorchidism, Sens...	ORPHA:649
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, Atrial septal defect, Curly h...	OMIM:615279
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Highly arched eyebrow, Abnormal helix morphology, Finger syndactyly, Short toe, Umb...	ORPHA:1519
Laterality Defects, Autosomal Dominant	Asplenia, Situs inversus totalis, Heterotaxy	OMIM:601086
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Conductive hearing impairment, Abnormality of the vertebral column, Sp...	OMIM:601076
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly, Neutropenia, Abnormal rib morphology, Recurrent res...	ORPHA:2643
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Cone/cone-rod dystrophy, Bowing of the long bones, Short metacarpal, Ovoid verte...	ORPHA:85167
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowin...	ORPHA:3035
Blepharochalasis And Double Lip	Blepharochalasis, Goiter	OMIM:109900
Thyroid Lymphoma	Lymphoma, Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia	ORPHA:97285
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Recurrent otitis media, Microcytic anemia, Ankyloglossia, Hepatic steatosis, Ventri...	OMIM:619525
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis	OMIM:185500
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Mitral valve prolapse, Bicuspid aortic valve, Right atrial enlargement, Pectus excavatum, Narrow ...	ORPHA:555877
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Absence Of The Pulmonary Artery	Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Abnormal hemidiaphragm ...	ORPHA:980
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,...	ORPHA:1332
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Aplasia/Hypoplasia of the pubic bone, Short neck, Hepatoblastoma, Atrial septal def...	OMIM:269150
Grant Syndrome	Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of...	ORPHA:2097
Neurocardiofaciodigital Syndrome	Cerebellar vermis hypoplasia, Sparse eyebrow, Hearing impairment, Lateral ventricle dilatation, T...	OMIM:619869
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Low-set ears, Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, ...	OMIM:300863
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Peripheral edema, Interstitial cardiac fibrosis, Stroke, Left atrial...	ORPHA:75249
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Sclerosteosis 1	Broad clavicles, Optic atrophy, Abnormal pelvic girdle bone morphology, Deviation of finger, Hear...	OMIM:269500
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Mitral valve prolapse, Abnormal intestine mor...	ORPHA:286
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Agenesis of corpus callosum, Micropenis, Anal atresia, Polycystic kidney dysplasia, Cone-shaped e...	OMIM:613091
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyp...	OMIM:277600
Acrorenal-Mandibular Syndrome	Thin ribs, Low-set ears, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudi...	OMIM:200980
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Gastrointestinal hemo...	OMIM:187300
Cenani-Lenz Syndactyly Syndrome	Metacarpal synostosis, Renal hypoplasia, Broad hallux, Radioulnar synostosis, Ectopic kidney, Hem...	OMIM:212780
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Cryptorch...	OMIM:216340
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Pulmonary hypoplasia, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, F...	OMIM:615503
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Low-set ears, Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the ca...	ORPHA:163966
Bangstad Syndrome	Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Cleft soft palate, Genu valgum, Metaphyseal dysplasia, Gastroesophagea...	ORPHA:93316
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Osteogenesis Imperfecta, Type Vii	Narrow chest, Absent pulmonary artery, Crumpled long bones, Protrusio acetabuli, Hearing abnormal...	OMIM:610682
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Mitral valve prolapse, Pulmonary bulla, Absent earlobe, Finger joint hypermobilit...	OMIM:130050
Three M Syndrome 2	Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo...	OMIM:612921
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia...	OMIM:250420
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Umbilical hernia, Recurrent otitis media, Broad ribs, Hepatos...	OMIM:301066
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies, Male hypogonadism, Hypergonadotropic h...	OMIM:307500
Igg4-Related Thyroid Disease	Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol...	ORPHA:64744
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Pearson Syndrome	Hearing impairment, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidis...	ORPHA:699
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Cardiomyopathy, Broad ribs, Irregular carpal bones, Spondylolisthesis,...	OMIM:252600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Recurrent pneumonia, Aplasia/Hypoplasia of the capital femor...	OMIM:215150
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed...	ORPHA:90186
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Spondyloepiphyseal Dysplasia Congenita	Hearing impairment, Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Short neck, ...	ORPHA:94068
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Congenital Tracheal Stenosis	Abnormal earlobe morphology, Abnormality of the ureter, Anomalous origin of left pulmonary artery...	ORPHA:141127
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v...	ORPHA:71273
You-Hoover-Fong Syndrome	Hearing impairment, Clinodactyly, Kyphoscoliosis, Coarctation of aorta, Brachydactyly, Pectus exc...	OMIM:616954
Monosomy 9P	Low-set ears, Atresia of the external auditory canal, Abnormal antihelix morphology, Cryptorchidi...	ORPHA:261112
Congenital Tracheomalacia	Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc...	ORPHA:95430
Cerebrocostomandibular Syndrome	Posterior rib gap, Hydranencephaly, Multicystic kidney dysplasia, Conductive hearing impairment, ...	ORPHA:1393
Cerebrofaciothoracic Dysplasia	Cerebellar vermis hypoplasia, Narrow chest, Coarse hair, Low-set, posteriorly rotated ears, Thick...	ORPHA:1394
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, ...	OMIM:600460
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ...	OMIM:620076
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu...	ORPHA:93352
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar...	OMIM:600920
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Sparse eyebrow, Conductive hearing impa...	ORPHA:306542
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cry...	OMIM:276820
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Toe syndactyly, Supernumerary nipple, Te...	OMIM:100300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Slender long bone, Abn...	ORPHA:1506
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b...	OMIM:250220
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Aortic valve stenosis, Alopecia, Capillary hemangioma, Abnormal aortic m...	ORPHA:2396
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, A...	OMIM:617052
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Fibrosarcoma, Proteinuria, Abnormality of the pulmonary vasc...	ORPHA:33001
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Centrally nucleated skeletal muscle fibers, Atelectasis, Bilateral cryptorchidism, Gla...	OMIM:300219
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Ascites, Hypoplastic colon, Sh...	OMIM:200995
Osteogenesis Imperfecta, Type Iii	Thin ribs, Hearing impairment, Slender long bone, Protrusio acetabuli, Biconcave vertebral bodies...	OMIM:259420
Cardiomyopathy, Familial Restrictive, 3	Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa...	OMIM:612422
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Advanced ossification of carpal bones, Flat acetab...	OMIM:615777
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod...	OMIM:620233
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype...	OMIM:613239
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Arterial calcification, Cardiomegaly, Coronary artery calcification, Right atri...	OMIM:614473
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy...	OMIM:160980
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae, Recurre...	OMIM:608681
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco...	OMIM:259440
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Tubulointer...	ORPHA:358
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Cirrhosis, Clubbing, Polycythemia, Cerebral arteriovenous malfor...	OMIM:600376
Glutaric Aciduria Iii	Glutaric aciduria, Hyperthyroidism, Goiter	OMIM:231690
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri...	OMIM:271665
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Loose anagen hair, Sparse scalp hair, Abnormal sternum morphology, Hypertrophic car...	OMIM:607721
Hypophosphatasia	Narrow chest, Emphysema, Bowing of the long bones, Abnormal rib morphology, Anemia, Abnormal meta...	ORPHA:436
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Sparse lateral eyebrow, Recurrent otitis media, Right aortic arch, Ventr...	ORPHA:513456
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Chiari malformation, Genu valgum, Neu...	ORPHA:93357
Achondrogenesis, Type Ii	Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ...	OMIM:200610
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ...	ORPHA:95712
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Oligohydramnios, Congenital diaphragmatic ...	ORPHA:139466
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Cryptorchidism,...	OMIM:180700
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent...	OMIM:268400
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Slender long bone, Slender metacarpals, Microvesicular he...	OMIM:620601
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,...	ORPHA:2248
Matthew-Wood Syndrome	Low-set ears, Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicouret...	ORPHA:2470
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Narrow chest, Recurrent pneumonia, Thoracic hypoplasia, Broad ribs, Gen...	OMIM:613848
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Rib fusion, Pontine tegmental cap, Dysphagia, Hemivertebrae, Fa...	OMIM:614688
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Optic atrophy, Broad femoral neck, Hearing impairment, Broad ribs, Optic nerve com...	OMIM:619727
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elliptocytosis, Proximal renal tubular acidosis, Hepatomegaly, High palate, Seconda...	ORPHA:2785
Liposarcoma	Sarcoma, Varicose veins	ORPHA:69078
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, 11 pairs of ribs, Patent foramen ovale, Atrial septal defect, Brachyda...	OMIM:619184
Monosomy 13Q34	Hematochezia, Postaxial foot polydactyly, Horizontal eyebrow, Abnormal earlobe morphology, Hepati...	ORPHA:96168
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Conductive hearing impairment, Radial bowing, Decreased...	OMIM:602152
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i...	OMIM:225500
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Varicose veins, Increased hematocrit, Increase...	OMIM:263400
Aceruloplasminemia	Macular degeneration, Abnormal pancreas morphology, Refractory anemia, Abnormality of retinal pig...	ORPHA:48818
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes...	OMIM:610655
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Peripheral edema, Pleural effusion, Cardiomegaly, Abnorma...	ORPHA:1677
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Ventricular septal defect, Atrial ...	ORPHA:363700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Cerebellar atrophy, Exocrine pancreatic insufficiency, Ulnar deviation of the 2...	OMIM:616263
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Craniometadiaphyseal Dysplasia	Low-set ears, Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Coxa valga, High pala...	OMIM:269300
Kbg Syndrome	Ulnar deviation of the 2nd finger, Cryptorchidism, Low posterior hairline, Short neck, Macrotia, ...	OMIM:148050
Campomelic Dysplasia	Small abnormally formed scapulae, Low-set ears, Narrow chest, Hip dislocation, Hearing impairment...	ORPHA:140
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimm...	OMIM:619313
Brittle Cornea Syndrome	Conductive hearing impairment, Abnormal epiphysis morphology, Mitral valve prolapse, Sensorineura...	ORPHA:90354
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram...	OMIM:618748
Cole-Carpenter Syndrome 2	Platyspondyly, Thin ribs, Oligohydramnios, Hydrocephalus, Narrow iliac wing, Pectus excavatum, Hi...	OMIM:616294
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Peripheral edema, Left atrial enlargement, Left ve...	ORPHA:99106
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar...	OMIM:171400
Geleophysic Dysplasia 1	Platyspondyly, Aortic valve stenosis, Joint contracture of the hand, Irregular capital femoral ep...	OMIM:231050
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal metaphysis morphology, Bowing of the long bones, ...	ORPHA:2050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Thin ribs, Metaphyseal irregularity, Short femoral neck, Narrow vertebral interped...	OMIM:618395
Isotretinoin Embryopathy-Like Syndrome	Anotia, Conotruncal defect, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Biconcave vertebral bodies, Bowing o...	OMIM:617952
Cirrhotic Cardiomyopathy	Ascites, Peripheral edema, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, P...	ORPHA:57777
Camptodactyly Syndrome, Guadalajara Type 3	Sternocleidomastoid amyotrophy, Small hand, Broad femoral neck, Thick eyebrow, Thickened cortex o...	ORPHA:488434
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A...	OMIM:614823
Neurofibromatosis-Noonan Syndrome	Low-set ears, Secundum atrial septal defect, Neurofibroma, Cryptorchidism, Pectus excavatum of in...	OMIM:601321
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Low-set, posteriorly rotated ears, Femoral bowing, Arachno...	ORPHA:83
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Cryptorchidism, Torticollis, Varicose veins	OMIM:314300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tubular bones ...	ORPHA:85184
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ...	ORPHA:2554
Shwachman-Diamond Syndrome 2	Low-set ears, Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Ante...	OMIM:617941
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Narrow chest, Conductive hearing impairment, Hearing impairment, Multiple rib frac...	OMIM:616229
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal optic nerve morphology, Abnormality ...	ORPHA:79078
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Metaphyseal cupping, Hearing impairment, Hyperphosphaturia, Hip contracture, Sh...	OMIM:156400
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Ascites, Ankyloglossia, Aniridia, Hydrocephalus,...	OMIM:602361
Ulbright-Hodes Syndrome	Thin ribs, Low-set ears, Fibular aplasia, Cryptorchidism, Humeroradial synostosis, Short neck, Ov...	ORPHA:3404
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr...	ORPHA:93317
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis, B...	OMIM:618265
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Cleft palate, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Small pituitary gland, Narrow chest, Dysgenesis of the cerebellar vermis, Thoracic ...	OMIM:619479
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Cavernous hemangioma of the face, Right aortic arch, Supraumbilical raphe, Coarcta...	OMIM:140850
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement, Stroke	OMIM:617047
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Normocytic anemia, Gastrointestinal hemorrhage, Hypochromic anemia, Gastro...	ORPHA:99147
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti...	OMIM:620067
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Congenital hypoparathy...	ORPHA:93324
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Thin ribs, Hypoplasia of the pons, Cerebellar hypoplasia, Scoliosis	OMIM:615220
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Abnormality of the urethra, Hearing impairment, Dystrophic toenail, Camptodactyly of ...	ORPHA:2907
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dilated cardiomyopathy, Dry hair, Coarse hair, Myofiber disarray, Polyhyd...	OMIM:620519
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal earlobe morpholog...	ORPHA:2769
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Cryptorchidism, Penoscrotal...	ORPHA:456328
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio...	OMIM:609152
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Fetal distress, Broad ribs, Joint swelling, Splenomegaly, Flaring of rib cage, Neutrophilia, Hepa...	OMIM:612852
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Decreased fibular diameter, Dysplasia of the femoral head, Genu valgum, Hepatomegaly, ...	OMIM:619127
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Transient ischemic attack, Anomalous origin of the left common carotid artery from the...	ORPHA:99104
Kyphomelic Dysplasia	Platyspondyly, Low-set ears, Short femur, Thoracic hypoplasia, Radial bowing, Flared metaphysis, ...	OMIM:211350
Xylt1-Cdg	Broad thumb, Clinodactyly, Flared metaphysis, Broad ribs, Hirsutism, Short clavicles, Coxa valga,...	ORPHA:370930
Eiken Syndrome	Delayed epiphyseal ossification, Chiari malformation, Clinodactyly, Broad femoral neck, Broad rib...	OMIM:600002
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Congenital hypoparathyroidism, Anemia, Long clavicles, ...	OMIM:244460
X-Linked Hypophosphatemia	Renal phosphate wasting, Shortening of the talar neck, Flattening of the talar dome, Rachitic ros...	ORPHA:89936
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Abnormal form of the vertebral bo...	ORPHA:3015
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Oligohydramnios, Inguinal hernia, Short ribs...	OMIM:271520
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Recurrent pneumonia, Lateral ventricle dilatation, Optic nerve compression, Spleno...	OMIM:612301
Duodenal Atresia	Annular pancreas, Abnormality of the pulmonary artery, Polyhydramnios, Duodenal atresia, Abnormal...	ORPHA:1203
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Thin ribs, Radial bowing, Slender long bone, Femoral bowing, Inguinal hernia, Barr...	OMIM:610915
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ...	OMIM:620189
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Neutropenia, Hepatomegaly, 3-Methylglutaric aciduria, Villous...	OMIM:557000
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100078
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Lymphedema, Venous malformation, Varicose veins	OMIM:613089
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:424
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Ascites, Ch...	OMIM:615710
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid ca...	OMIM:300952
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:99819
Familial Cerebral Cavernous Malformation	Choroidal hemangioma, Neuroma, Meningioma, Venous malformation, Retinal cavernous hemangioma, Hem...	ORPHA:221061
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Hearing impairme...	ORPHA:3109
Varicose Veins	Varicose veins	OMIM:192200
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decreased respons...	ORPHA:90695
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Glomuvenous Malformation	Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Abn...	ORPHA:83454
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Thin ribs, Decreased urinary lysyl-pyridinoline-...	OMIM:225400
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Finger syndactyly, Cryptorchidism, Generalized hirsutism, Split hand, Abnormal ri...	ORPHA:1300
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Otosclerosis, Hearing impairment, Bicon...	OMIM:166220
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Transient ischemic attack, Abnormal mitral valve morphology, Stroke, Right atrial enla...	ORPHA:99103
Pyknoachondrogenesis	Low-set ears, Unossified sacrum, Short iliac bones, Horizontal ribs, Short ribs, Poorly ossified ...	ORPHA:3003
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Hem...	OMIM:616858
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Finger syndactyly, Camptodactyly of finger, Short 5th metaca...	ORPHA:2908
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Watson Syndrome	Low-set ears, Pectus carinatum, Neurofibroma, Lisch nodules, Posteriorly rotated ears, Pulmonic s...	OMIM:193520
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Sacral Defect With Anterior Meningocele	Sacral lipoma, Absence of the sacrum, Hydromyelia, Urinary retention, Myelomeningocele, Myeloschi...	OMIM:600145
Igg4-Related Submandibular Gland Disease	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ...	ORPHA:449432
Multiple Synostoses Syndrome 4	Overlapping toe, Otosclerosis, Brachydactyly, Tarsal synostosis	OMIM:617898
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	OMIM:137920
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Neoplasm, Right atrial enlargement, Myeloproliferative disor...	ORPHA:70591
Otosclerosis 4	Mixed hearing impairment, Otosclerosis	OMIM:611571
Otosclerosis 10	Otosclerosis	OMIM:615589
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Cerebellar dysplasia, Aprosencephaly, Retinal dysplasia, Poorly formed metencephalon	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

Eye Morphology

X-ray

DSS Histology

Anti-nuclear antibody assay

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by H13 mutations

Histopathology

IMPC related publications

External links

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Access Data Release 21.1 Data