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Gene: Ltbp1 MGI:109151

Gene Summary

Name:

latent transforming growth factor beta binding protein 1

Synonyms:

Ltbp1L, LTBP-1, 9430031G15Rik, b2b1000Clo

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cranium morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.87×10^-12
abnormal tooth morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.65×10^-10
abnormal radius morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.77×10^-12
vertebral fusion	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.49×10^-05
decreased bone mineral content	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.20×10^-05
abnormal snout morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.25×10^-12
abnormal ulna morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.33×10^-11
increased circulating bilirubin level	Ltbp1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.64×10^-05
decreased total body fat amount	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.21×10^-09
decreased body weight	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-13
abnormal coat/hair pigmentation	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.98×10^-05
abnormal incisor morphology	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.73×10^-06
increased hemoglobin content	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.23×10^-05
decreased body length	Ltbp1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.03×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 3)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (3 of 3)
Bone	N/A	heterozygote	0.0% (0 of 3)
Brain	N/A	heterozygote	0.0% (0 of 3)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 3)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 3)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 3)
Gall bladder	N/A	heterozygote	66.67% (2 of 3)
Heart	N/A	heterozygote	66.67% (2 of 3)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	33.33% (1 of 3)
Large intestine	N/A	heterozygote	0.0% (0 of 3)
Liver	N/A	heterozygote	33.33% (1 of 3)
Lower urinary tract	N/A	heterozygote	66.67% (2 of 3)
Lung	N/A	heterozygote	33.33% (1 of 3)
Lymph node	N/A	heterozygote	0.0% (0 of 3)
Mammary gland	N/A	heterozygote	0.0% (0 of 3)
Esophagus	N/A	heterozygote	0.0% (0 of 3)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	66.67% (2 of 3)
Oviduct	N/A	heterozygote	66.67% (2 of 3)
Pancreas	N/A	heterozygote	0.0% (0 of 3)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 3)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 3)
Peyer's patch	N/A	heterozygote	0.0% (0 of 3)
Pituitary gland	N/A	heterozygote	0.0% (0 of 3)
Prostate gland	N/A	heterozygote	0.0% (0 of 3)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 3)
Small intestine	N/A	heterozygote	33.33% (1 of 3)
Spinal cord	N/A	heterozygote	0.0% (0 of 3)
Spleen	N/A	heterozygote	0.0% (0 of 3)
Stomach	N/A	heterozygote	100% (3 of 3)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	33.33% (1 of 3)
Thymus	N/A	heterozygote	0.0% (0 of 3)
Thyroid gland	N/A	heterozygote	33.33% (1 of 3)
Trachea	N/A	heterozygote	66.67% (2 of 3)
Uterus	N/A	heterozygote	33.33% (1 of 3)
White adipose tissue	N/A	heterozygote	0.0% (0 of 3)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

10 Images

View images

Legacy Phenotype Associated Images

Ltbp1^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
head, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
body, HOM, Female, WTSI

View all 135 images

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, abnormal snout morphology, HOM, Male, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
short snout, asymmetric snout, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
asymmetric snout, short snout, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
asymmetric snout, HOM, Male, WTSI

View all 7 images

Ltbp1^{tm1a(EUCOMM)Wtsi}
eye, synechia, mydriasis, corneal opacity, cornea/lens fusion, impaired pupillary reflex, HOM, Female, WTSI

Ltbp1^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Ltbp1 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 Ltbp1 (2 diseases)
Human diseases predicted to be associated with Ltbp1 (2137 diseases)

The table below shows human diseases associated to Ltbp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cutis Laxa, Autosomal Recessive, Type Iie		Joint laxity, Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosy...	OMIM:619451
Autosomal Recessive Cutis Laxa Type 1		Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr...	ORPHA:90349

The table below shows human diseases predicted to be associated to Ltbp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Cysteine Peptiduria	Abnormal circulating glycine concentration, Abnormal circulating cysteine concentration	OMIM:219550
Sarcosinemia	Hypersarcosinemia	OMIM:268900
Maple Syrup Urine Disease, Mild Variant	Hyperisoleucinemia, Hyperleucinemia	OMIM:615135
Schizophrenia 4	Hyperprolinemia	OMIM:600850
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Tricuspid Atresia	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of ri...	ORPHA:1209
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri...	OMIM:616749
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul...	ORPHA:860
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Abnor...	ORPHA:3104
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Atrial septal defect, Scimitar anomaly, Neonatal death...	OMIM:608978
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Neonatal Hemochromatosis	Anteverted nares, Micrognathia, Prominent nose, Congenital hepatic fibrosis, Prolonged neonatal j...	ORPHA:446
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Delayed sk...	ORPHA:1837
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r...	OMIM:620294
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth, Aplastic/hypoplastic toenail, Clinodactyly of the 5t...	ORPHA:1094
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali...	ORPHA:2501
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Wide nasal bridge, Cutaneous syndactyly, Fin...	OMIM:272440
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria luso...	ORPHA:99050
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, ...	ORPHA:2516
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Br...	OMIM:232400
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
17Q21.31 Microduplication Syndrome	Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar ...	ORPHA:217340
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Abnormal heart morphology, Atrial septal defect, Trunc...	ORPHA:401935
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo...	OMIM:613684
Acrodysostosis	Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh...	ORPHA:950
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract	ORPHA:1705
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ...	OMIM:300602
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Dental malocclusion	OMIM:155050
Scimitar Syndrome	Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Single ventricle,...	ORPHA:185
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal ma...	ORPHA:3268
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Obesity, Low posterior hairline,...	ORPHA:2233
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc...	ORPHA:3352
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla...	ORPHA:3426
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia...	ORPHA:3319
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mo...	ORPHA:337
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr...	OMIM:619719
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sin...	ORPHA:2332
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus a...	OMIM:601186
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi...	ORPHA:1193
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, ...	ORPHA:370010
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del...	ORPHA:85198
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metap...	ORPHA:93307
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Renovascular hypertension, Aortic dissection	OMIM:135580
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of t...	OMIM:257850
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Absence Of The Pulmonary Artery	Cyanosis, Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, P...	ORPHA:980
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Cohen Syndrome	Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse palmar crease, Mic...	OMIM:216550
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High ...	ORPHA:93315
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c...	ORPHA:1166
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Heart Defects, Congenital, And Other Congenital Anomalies	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	OMIM:600001
Adams-Oliver Syndrome 4	Cutis marmorata, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbil...	OMIM:615297
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hemivertebra...	ORPHA:377
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect,...	OMIM:608104
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Deep philtrum, High palate, Everte...	ORPHA:261120
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Broad nasal tip	ORPHA:2776
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Desc...	ORPHA:229
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Retrogn...	OMIM:194350
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress...	ORPHA:1529
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of...	OMIM:618729
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Micropeni...	OMIM:617516
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
You-Hoover-Fong Syndrome	Coarctation of aorta, Double aortic arch, Vascular ring	OMIM:616954
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu...	ORPHA:391641
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Conve...	ORPHA:1695
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose	ORPHA:1355
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex...	OMIM:156510
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, A...	ORPHA:1515
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Adducted thumb, Notched primary central incis...	OMIM:620062
Aortic Arch Interruption	Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv...	ORPHA:2299
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Isolated Polycystic Liver Disease	Multiple renal cysts, Vascular dilatation	ORPHA:2924
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Leu...	ORPHA:1328
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia	OMIM:616920
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Clinodactyly o...	OMIM:244600
Acrocardiofacial Syndrome	Death in infancy, Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Coarctatio...	ORPHA:2008
Igg4-Related Aortitis	Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila...	ORPHA:449400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth	OMIM:613670
Emanuel Syndrome	Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t...	OMIM:609029
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Laubry-Pezzi Syndrome	Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se...	ORPHA:99094
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,...	OMIM:614613
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric...	OMIM:265380
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis...	ORPHA:177910
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormal hair pattern, Short neck, Abnormality of the d...	ORPHA:1738
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Perlman Syndrome	Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ...	ORPHA:2849
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick...	OMIM:234250
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Transaldolase Deficiency	Hepatomegaly, Depressed nasal bridge, Splenomegaly, Micronodular cirrhosis, Wide anterior fontane...	OMIM:606003
Diaphanospondylodysostosis	Short neck, Cleft palate, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno...	ORPHA:66637
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Cleft palate, Low posterior hairline, Abnormal shoulder m...	ORPHA:2345
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T...	OMIM:192430
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane...	OMIM:178110
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Periportal fibrosis, Retrognathi...	OMIM:263210
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Micrognathia, Abnormal tibia morphology, Synophrys, Low anterio...	ORPHA:251014
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor...	OMIM:302350
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:613313
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Intellectual Developmental Disorder, X-Linked 91	High palate, Short nose, Macrodontia	OMIM:300577
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Ab...	ORPHA:96169
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short philtrum	ORPHA:93945
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Thick hair, Abnormal dental enamel morphology, Join...	ORPHA:2107
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Abnorm...	ORPHA:1897
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Dental crowding, Short metatarsal, Short palm, Sparse hair, Short phalanx of finger, ...	OMIM:190351
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Single transverse palmar crease, Cleft palate, Thin vermilion border, Long eyelash...	OMIM:615502
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Coxa vara, Patchy reduction of b...	ORPHA:249
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Hypopigm...	ORPHA:221008
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Micrognathia, Open bite, Kyphosis, Carious teeth, Reduced bo...	ORPHA:2617
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick...	OMIM:618506
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb...	ORPHA:363444
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Single transverse palmar crease, Craniosynostosis, Congenital diaphr...	ORPHA:2409
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Short nose, High palate, Micrognathia	ORPHA:2598
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced...	OMIM:618737
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Congenital ...	ORPHA:2255
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Pulmonic stenosis, Transposition of the great arteries, Perimembranous vent...	OMIM:617877
Emanuel Syndrome	Delayed eruption of teeth, Redundant neck skin, Multiple joint contractures, Ventricular septal d...	ORPHA:96170
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,...	OMIM:616549
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Syn...	OMIM:213980
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin...	OMIM:309620
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate...	ORPHA:1200
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Long philtrum...	ORPHA:261295
Congenital Tracheomalacia	Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu...	ORPHA:95430
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose, Long philtrum	OMIM:125700
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec...	OMIM:108721
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Hypoplastic fronta...	OMIM:136760
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Alopecia, Generalized hypoplasia of dental enamel, Carious teeth, Flexio...	OMIM:203550
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no...	ORPHA:1906
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba...	ORPHA:99095
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality...	ORPHA:53
Snijders Blok-Campeau Syndrome	Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Cardiac Valvular Dysplasia 1	Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste...	OMIM:212093
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth	OMIM:617507
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Ectodermal dysplasia, Atrial septal defect, Common atrium	OMIM:225500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening	OMIM:241310
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Depressed nasal bridge, ...	ORPHA:79322
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short neck, Microcytic anemia, Micrognathia, Short toe, Flexion contracture, Wide nasal bridge, R...	ORPHA:98791
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Short neck, Sparse eyebrow, Delayed skeletal mat...	OMIM:616202
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Perching Syndrome	Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron...	OMIM:614846
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Congenital Myopathy 11	Atrial septal defect, Weakness of facial musculature, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Shor...	OMIM:618804
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Scoliosis, Multiple cafe-au-lait s...	ORPHA:1445
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat...	ORPHA:570
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch, Vesicouret...	ORPHA:250989
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul...	ORPHA:1461
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormal palate morphology	ORPHA:1450
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Cenani-Lenz Syndactyly Syndrome

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