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Gene: Jag2 MGI:1098270

Gene Summary

Name:

jagged 2

Synonyms:

D12Ggc2e, Serh

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Jag2^{tm1b(KOMP)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

Select physiological systems to view:

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
Aorta	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	50% (1 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Oral epithelium	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	50% (1 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	Not available
Brain	N/A	homozygote	50% (1 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 2)
Footplate	N/A	heterozygote	Not available
Footplate	N/A	homozygote	Not available
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	50% (1 of 2)
Forelimb	N/A	heterozygote	50% (1 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	Not available
Handplate	N/A	homozygote	Not available
Head	N/A	heterozygote	50% (1 of 2)
Head	N/A	homozygote	50% (1 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	50% (1 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	Not available
Midbrain	N/A	homozygote	50% (1 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	50% (1 of 2)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	1.17% (6 of 511)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

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

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

View images

Adult LacZ

LacZ Images Wholemount

19 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

View images

MicroCT E18.5

Embryo reconstruction

3 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

3 Images

View images

Human diseases caused by Jag2 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 Jag2 (1 diseases)
Human diseases predicted to be associated with Jag2 (1433 diseases)

The table below shows human diseases associated to Jag2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27		Knee flexion contracture, Distal upper limb muscle weakness, Spinal rigidity, Elbow flexion contr...	OMIM:619566

The table below shows human diseases predicted to be associated to Jag2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Orofacial Cleft 11	Cleft palate, Cleft lip	OMIM:600625
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Polydactyly, Preaxial Ii	Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t...	OMIM:174500
Syndactyly Type 1	Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly	ORPHA:93402
Syndactyly Type 2	Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S...	ORPHA:93403
Syndactyly, Type Iii	4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger	OMIM:186100
Syngnathia	Cleft palate	OMIM:119550
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Cleft palate, Pierre-Robin sequence	OMIM:172880
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus	OMIM:234280
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod...	OMIM:311895
Syndactyly, Type Iv	Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ...	OMIM:186200
Symphalangism With Multiple Anomalies Of Hands And Feet	Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,...	ORPHA:3246
Multiple Synostoses Syndrome 3	Limited interphalangeal movement, Humeroradial synostosis, Cutaneous syndactyly of toes, Metatars...	OMIM:612961
Osebold-Remondini Syndrome	Short phalanx of finger, Short toe, Short tibia, Hypoplasia of the radius, Decreased finger mobil...	OMIM:112910
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Upper limb phocomelia, Syndactyly, Stillbirth, Cleft palate, Abnormal hip bone morph...	ORPHA:294975
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly...	OMIM:183600
Brachydactyly, Type B2	Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala...	OMIM:611377
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl...	ORPHA:1891
Tarsal-Carpal Coalition Syndrome	Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum...	OMIM:186570
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f...	ORPHA:93406
Proximal Symphalangism	Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno...	ORPHA:3250
Polydactyly, Postaxial, Type A5	Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly	OMIM:263450
Acromesomelic Dysplasia, Hunter-Thompson Type	Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc...	ORPHA:968
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Dumbbell-shaped humerus, Vertebral segmentation defect, Synostosis of ca...	ORPHA:1836
Acropectorovertebral Dysplasia	Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp...	ORPHA:957
Mesomelic Dysplasia, Nievergelt Type	Sacral dimple, Camptodactyly of finger, Genu valgum, Genu varum, Finger syndactyly, Abnormality o...	ORPHA:2633
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Dysplasia Epiphysealis Hemimelica	Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Osteoarthritis, Accelerated...	ORPHA:1822
Syndactyly Type 3	Camptodactyly of finger, Short toe, Finger syndactyly	ORPHA:93404
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp...	DECIPHER:46
Multiple Synostoses Syndrome 2	Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp...	OMIM:610017
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognat...	ORPHA:141152
Wahab Syndrome	Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum...	OMIM:615170
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab...	ORPHA:3269
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ...	OMIM:174700
Fibular Aplasia-Complex Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ...	ORPHA:2639
Synpolydactyly 2	Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:174200
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Sprengel Deformity	Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma...	ORPHA:3181
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Cleft palate, Split foot, Split hand	OMIM:183700
Robin Sequence-Oligodactyly Syndrome	Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph...	ORPHA:3104
Split-Hand/Foot Malformation 4	Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the...	OMIM:605289
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Auriculocondylar Syndrome 2	Micrognathia, Cleft palate, Glossoptosis, Hearing impairment, Posteriorly rotated ears, Overfoldi...	OMIM:614669
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Fatco Syndrome	Finger syndactyly, Abnormality of tibia morphology, Split hand, Abnormality of fibula morphology,...	ORPHA:2492
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Multiple Synostoses Syndrome 1	2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi...	OMIM:186500
Brachydactyly, Type A2	2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd...	OMIM:112600
Liebenberg Syndrome	Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w...	OMIM:186550
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Vertebral segmentation defect, Ulnar deviation of finger, Joint sti...	ORPHA:1147
Talonavicular Coalition	Foot pain, Proximal/middle symphalangism of 5th finger, Coalescence of tarsal bones, Clinodactyly...	OMIM:186750
Jackson-Weiss Syndrome	Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat...	OMIM:123150
Crossed Polysyndactyly	Postaxial hand polydactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Finger ...	ORPHA:2935
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab...	ORPHA:1892
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly	OMIM:185900
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot...	OMIM:609441
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn...	ORPHA:2064
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder...	OMIM:601952
Brachydactyly Type A7	Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu...	ORPHA:93397
Perching Syndrome	Cyanosis, Camptodactyly, High palate, Respiratory distress	OMIM:617055
Brachydactyly-Syndactyly Syndrome	Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,...	OMIM:610713
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis	ORPHA:71289
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S...	OMIM:618469
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, Widely spaced teeth, 2-3 finger syndactyly, Microdontia, 2-4 finge...	OMIM:225280
Symphalangism, Proximal, 1A	Proximal symphalangism of hands, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle...	OMIM:185800
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn...	ORPHA:157801
Humero-Radial Synostosis	Meningocele, Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormality of the wrist, Limitati...	ORPHA:3265
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate	OMIM:223200
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Patellar hypoplasia, Coxa vara, Patellar aplasia, Patellar dislocation, Flat capital femoral epip...	OMIM:147891
Split-Hand/Foot Malformation 6	Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand	OMIM:225300
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi...	OMIM:613000
Synostoses, Tarsal, Carpal, And Digital	Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi...	OMIM:186400
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:617574
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Synostosis of carpals/tarsals, S...	ORPHA:363417
Nievergelt Syndrome	Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus...	OMIM:163400
Syndactyly, Type V	Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos...	OMIM:186300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Flexion contracture, Vertebral hypoplasia, Orthokeratosis, Epiphyseal stippling, 2-5 finger synda...	OMIM:308050
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Cleft palate, Tooth agenesis, Non-midline cleft lip	ORPHA:1074
Gordon Syndrome	Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa...	ORPHA:376
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul...	OMIM:604117
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Respiratory distress, Medi...	ORPHA:1832
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Keratoderma Hereditarium Mutilans With Ichthyosis	Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper...	ORPHA:79395
Congenital Laryngomalacia	Cleft palate, Non-midline cleft lip	ORPHA:2373
Temtamy Preaxial Brachydactyly Syndrome	Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty...	OMIM:605282
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis, Scapular winging, Narrow mouth, Cleft palate	ORPHA:2901
Dermatoosteolysis, Kirghizian Type	Abnormal foot morphology, Abnormality of the wrist, Osteolysis, Abnormal diaphysis morphology, Ab...	ORPHA:1657
Chromosome 2Q31.1 Duplication Syndrome	Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus	OMIM:613681
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi...	ORPHA:750
Acropectorovertebral Dysplasia	Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn...	OMIM:102510
Olmsted Syndrome, X-Linked	Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta...	OMIM:300918
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha...	ORPHA:488232
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Palmoplantar blistering	OMIM:131800
Orofaciodigital Syndrome Type 10	Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin...	ORPHA:2756
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness	OMIM:617756
Pierre Robin Syndrome	Cleft palate, Pierre-Robin sequence, Glossoptosis	OMIM:261800
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnorm...	ORPHA:3429
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Tapered finger, Restricted chest movement	ORPHA:2812
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl...	OMIM:178110
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali...	ORPHA:1106
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox...	OMIM:609432
Pityriasis Rubra Pilaris	Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:173200
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Split-Hand/Foot Malformation 2	Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand	OMIM:313350
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th...	ORPHA:3268
Olmsted Syndrome 1	Flexion contracture, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis,...	OMIM:614594
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory insufficiency, Respiratory failure, High palate, Respiratory...	OMIM:614399
Arthrogryposis, Distal, Type 1C	Camptodactyly of finger, Wrist flexion contracture, High palate, Hip contracture, Elbow flexion c...	OMIM:619110
Santos Syndrome	Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre...	OMIM:613005
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Broad foot, Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal syn...	ORPHA:93307
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker...	OMIM:615598
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Multiple joint contractures, Palmoplantar hyperkeratosis, Congenital ...	ORPHA:100976
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid distal phalanx of the thumb, Conductive hearing impairment, Partial duplication of the dist...	ORPHA:2669
Brachydactyly Type B	Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi...	ORPHA:93383
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Holzgreve Syndrome	Cleft palate, Cleft upper lip, Hand polydactyly	OMIM:236110
Cleft Palate, Isolated	Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Ulnar Hemimelia	Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,...	ORPHA:93320
Cleft Palate-Lateral Synechia Syndrome	Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth	ORPHA:2016
Brachydactyly Type B2	Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca...	ORPHA:140908
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Cleft palate, Bowing of the arm, Bowing of the legs	OMIM:249710
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ...	OMIM:185700
Ichthyosis, Congenital, Autosomal Recessive 1	Flexion contracture, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:242300
Charlie M Syndrome	Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Sh...	ORPHA:1406
Limb-Mammary Syndrome	Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,...	OMIM:603543
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc...	OMIM:305620
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly	OMIM:610140
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Syndactyly, Split foot, Short finger, Hypoplasia of the ulna	OMIM:314360
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid...	OMIM:256200
Moebius Syndrome	Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal...	OMIM:157900
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the ankle, Abnormality of the wrist, Carpal synostosis	ORPHA:2010
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility, Miscarriage	OMIM:619176
Ichthyosis Hystrix Of Curth-Macklin	Flexion contracture, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Autoamputat...	ORPHA:79503
Brachydactyly-Syndactyly, Zhao Type	Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid...	ORPHA:93409
Hypoglossia With Situs Inversus	Asplenia, High palate, Hypodontia, Polysplenia, Micrognathia, Respiratory distress, Narrow mouth,...	OMIM:612776
2q33.1 deletion syndrome	Cleft palate, High palate	DECIPHER:51
Palmoplantar Carcinoma, Multiple Self-Healing	Finger joint hypermobility, Parakeratosis, Short neck, Palmoplantar keratoderma, Follicular hyper...	OMIM:615225
Epidermolytic Palmoplantar Keratoderma	Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Clubbing, Diffuse palmoplan...	ORPHA:2199
Congenital Disorder Of Glycosylation, Type Iy	Macrotia, Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Respiratory distress	OMIM:300934
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones	OMIM:600384
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Kyphoscoliosis, Hyperkeratosis	OMIM:618339
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Death in infancy	OMIM:258320
Olmsted Syndrome 2	Flexion contracture of digit, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Periora...	OMIM:619208
Mesomelic Dysplasia, Kantaputra Type	Radial bowing, Tarsal synostosis, Carpal synostosis	OMIM:156232
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Cleft Lip With Or Without Cleft Palate	Non-midline cleft lip, Median cleft lip and palate, Median cleft lip, Non-midline cleft palate, S...	ORPHA:1991
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmar hyperline...	OMIM:604777
Spondylocarpotarsal Synostosis Syndrome	Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin...	OMIM:272460
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate	OMIM:119300
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camp...	ORPHA:95699
Ichthyosis, Congenital, Autosomal Recessive 6	Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker...	OMIM:612281
Anonychia With Flexural Pigmentation	Hyperkeratosis, Abnormal skin morphology of the palm, Follicular hyperkeratosis, Abnormality of t...	ORPHA:69125
Bazex Syndrome	Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Acanthosis nigricans	ORPHA:166113
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate	OMIM:300484
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cleft palate, Short foot, Abnormal hand morphology, Small hand	OMIM:300261
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Weakness of long finger extensor muscles, High palate, Exertional dyspnea, Triceps weak...	ORPHA:98913
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Abnorm...	ORPHA:1307
Epiphyseal Dysplasia, Multiple, 1	Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Avascula...	OMIM:132400
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:148500
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging...	OMIM:616331
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short phalanx of finger, Short metatarsal, Short metacarpal, Widely spaced teeth, Angel-shaped ph...	OMIM:617102
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Tapered finger, Acrocyanosis	OMIM:302000
Aminopterin Syndrome Sine Aminopterin	Umbilical hernia, High palate, Joint contracture of the hand, Micrognathia, Oligodontia, Clinodac...	OMIM:600325
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis	OMIM:615821
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Postaxial hand polydactyly, Syndactyly	OMIM:615938
Multiple Synostoses Syndrome 4	Broad foot, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus	OMIM:617898
Orofaciodigital Syndrome Xix	Cleft soft palate, Toe syndactyly, Microdontia, Additional crus of antihelix, Broad hallux, Posta...	OMIM:620107
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Wt Limb-Blood Syndrome	Ulnar deviation of thumb, Short phalanx of finger, Ulnar deviation of the 3rd finger, Absent thum...	OMIM:194350
Muenke Syndrome	Short foot, Coronal craniosynostosis, Carpal synostosis, Tarsal synostosis, Short palm, Cone-shap...	ORPHA:53271
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S...	ORPHA:971
Multiple Epiphyseal Dysplasia, Lowry Type	Genu valgum, Fixed elbow flexion, Micrognathia, Fragmented epiphyses, Epiphyseal dysplasia, Dislo...	ORPHA:166016
Auriculocondylar Syndrome	Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle...	ORPHA:137888
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Myelomeningocele, Encephalocele, Increased bone mineral density, Synosto...	ORPHA:90652
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm...	OMIM:216300
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Hypogonadism, Brachydactyly	OMIM:615983
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Patellar hypoplasia, Abnormal breath sound, Asthma, Micrognathia, Hypoxem...	ORPHA:2257
Coloboma Of Macula And Skeletal Anomalies	Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j...	OMIM:216800
Faciocardiomelic Dysplasia, Lethal	Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,...	OMIM:227270
Aase-Smith Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Slender finger, Cleft palate, Abnormal...	ORPHA:916
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis	ORPHA:79151
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Palmoplantar blistering	OMIM:226735
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sensorineural hearing impairment, Microtia, Micrognathia, Bifid uvula, Respiratory distress, Mixe...	OMIM:606164
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Abnormal metaphysis morphology, Abnormal metacarpal morphology, Elbow di...	ORPHA:2631
Mesomelia-Synostoses Syndrome	Genu valgum, Abnormality of the knee, Abnormal foot morphology, Abnormality of the humerus, Synos...	ORPHA:2496
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Abnormality of the knee, Palmoplantar hyperkeratosis	ORPHA:158681
Immunodeficiency 104	Oral ulcer, T lymphocytopenia, Recurrent otitis media, Lymphadenopathy, Otitis media, Pneumonia, ...	OMIM:608971
15Q11Q13 Microduplication Syndrome	Joint hyperflexibility, Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Rubinstein-Taybi Syndrome 2	Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, High palate, Short f...	OMIM:613684
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Genu valgum, Cleft soft palate, Coxa vara, Short femoral neck, Abnormality...	ORPHA:93316
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Short long bone, Camptodactyly, Respiratory distress, Stillbirth...	OMIM:619751
Nevus Comedonicus Syndrome	Ichthyosis, Finger syndactyly, Spina bifida, Toe syndactyly, Abnormal foot morphology, Abnormal v...	ORPHA:64754
Terminal Osseous Dysplasia	Camptodactyly of finger, Short toe, Camptodactyly of toe, Clinodactyly, Brachydactyly, Syndactyly...	OMIM:300244
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Abnormal pha...	ORPHA:498359
Epidermolysis Bullosa, Lethal Acantholytic	Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Ta...	OMIM:609638
Congenital Disorder Of Glycosylation, Type Iu	High palate, Optic atrophy, Death in infancy, Micrognathia, Respiratory distress, Thin upper lip ...	OMIM:615042
Pseudoachondroplasia	Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio...	OMIM:177170
Neuropathy, Hereditary Sensory, Type If	Osteolytic defects of the phalanges of the hand, Neuropathic arthropathy, Osteomyelitis, Hallux v...	OMIM:615632
Femur-Fibula-Ulna Complex	Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna...	ORPHA:2019
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea	OMIM:300604
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Cleft Velum	Conductive hearing impairment, Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficie...	ORPHA:99772
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, 2-3 toe syndactyly, Macrotia, High palate, Micrognathia, Clubbing of toes, Clubbing of ...	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ie	Upper limb undergrowth, Telangiectasia, Small hand, Optic atrophy, Micrognathia, Camptodactyly, R...	OMIM:608799
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Clinodact...	ORPHA:2759
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate	OMIM:137215
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Cleft lip, Arachnodactyly, Cleft palate, Large hands	OMIM:300263
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Long philtrum, Micrognathia, Prominent fingertip pads, Camptodactyly, Clinodac...	OMIM:618529
Odontochondrodysplasia 1	Short phalanx of finger, Dentinogenesis imperfecta, Genu varum, Metaphyseal cupping, Long philtru...	OMIM:184260
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency, Hearing impairment	ORPHA:2291
Orofaciodigital Syndrome X	Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia	OMIM:165590
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Monosomy 5P	High palate, Finger syndactyly, Small hand, Microretrognathia, Low-set, posteriorly rotated ears	ORPHA:281
Tarp Syndrome	Abnormal antihelix morphology, Cyanosis, Optic atrophy, Micrognathia, Prominent antihelix, Alveol...	ORPHA:2886
Brachydactyly, Type B1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo...	OMIM:113000
Congenital Vertical Talus	Distal arthrogryposis, Myelomeningocele, Abnormality of the foot musculature, Foot pain, Achilles...	ORPHA:178382
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Pfeiffer Syndrome Type 2	Hallux varus, High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Tracheoma...	ORPHA:93259
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Death in inf...	ORPHA:166272
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Short phalanx of finger, Perianal abscess, Long philtrum, Wide mouth, Small hand, Clinodactyly, U...	OMIM:614684
Coffin-Siris Syndrome 11	High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Small hand, Bifid uvula, Downturn...	OMIM:618779
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Genu valgum, Clinodactyly, Abnormal vertebral morphology, Spindle-shaped finger, Enlarged joints,...	ORPHA:166024
Oculofaciocardiodental Syndrome	2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Hearing impairment, Genu valgum, Fle...	ORPHA:2712
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Kniest Dysplasia	Genu varum, Conductive hearing impairment, Dumbbell-shaped long bone, Splayed epiphyses, Coxa var...	OMIM:156550
Microphthalmia With Limb Anomalies	Sacral dimple, Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip...	OMIM:206920
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic gir...	ORPHA:2725
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Weyers Ulnar Ray/Oligodactyly Syndrome	Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary...	OMIM:602418
Facial Clefting, Oblique, 1	Cleft palate, Deep palmar crease, Cleft upper lip	OMIM:600251
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Accelerated skeletal maturation	ORPHA:2297
Acromicric Dysplasia	Short phalanx of finger, Thickened skin, Fifth metacarpal with ulnar notch, Short metacarpal, Sho...	OMIM:102370
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Acromesomelic Dysplasia 2A	Short phalanx of finger, Short tibia, Flexion contracture, Short foot, Aplasia/Hypoplasia involvi...	OMIM:200700
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Mesomelia-Synostoses Syndrome	Short phalanx of finger, Progressive forearm bowing, Ulnar deviation of the hand or of fingers of...	OMIM:600383
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Genu valgum, Upper limb undergrowth, Metaphyseal dysplasia, Coxa vara, Capita...	OMIM:271650
Orofaciodigital Syndrome Iv	Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho...	OMIM:258860
Immunodeficiency 95	Respiratory failure, Respiratory distress, Lymphopenia, Recurrent viral pneumonia	OMIM:619773
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft palate, Ankyloglossia, Bifid uvula	OMIM:303400
Porokeratosis Of Mibelli	Porokeratosis, Hyperkeratosis	ORPHA:735
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Ectopic anus, Microtia, Microret...	ORPHA:2994
Mohr Syndrome	Conductive hearing impairment, Bifid tongue, Micrognathia, Partial duplication of the phalanges o...	OMIM:252100
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Synostosis of carpal bones, Abnormal metacarpal morphology, Olig...	ORPHA:90650
Bardet-Biedl Syndrome 16	Polydactyly, Hearing impairment, Recurrent otitis media, Respiratory distress	OMIM:615993
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive vent...	ORPHA:1302
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Genu valgum, Upper limb undergrowth, Broad foot, Abnormal carpal morphology, Sh...	ORPHA:93351
Branchiogenic-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa...	OMIM:609166
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal long bone morphology, Abnormal bone ossification, Increased bone miner...	ORPHA:166119
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap...	ORPHA:370010
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Abnormality of dental morphology...	ORPHA:2251
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Short toe, Abnormal mandible morphology, Tapered finger, Short 4th metac...	ORPHA:3201
Psoriasis 2	Parakeratosis, Hyperkeratosis	OMIM:602723
Eiken Syndrome	Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal bone ossificat...	ORPHA:79106
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Teebi Hypertelorism Syndrome 2	High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Everted lowe...	OMIM:619736
Aarskog-Scott Syndrome	Camptodactyly of finger, Umbilical hernia, Cleft upper lip, Long philtrum, Short foot, Delayed er...	ORPHA:915
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Death in infancy, Pyloric stenosis, Syndactyly, Carious teeth	OMIM:226700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a...	OMIM:246570
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Finger syndactyly,...	ORPHA:246
Chromomycosis	Abnormality of the upper limb, Hyperkeratotic papule, Abnormal foot morphology, Ankylosis, Abnorm...	ORPHA:182
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly	OMIM:615982
Eem Syndrome	Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of den...	ORPHA:1897
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Short metatarsal, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular...	ORPHA:1856
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Ectodermal dysplasia, Macrotia, Syndactyly, Thin upper lip vermilion, Palmopla...	OMIM:613576
Humeroradial Synostosis With Craniofacial Anomalies	Tarsal synostosis, Carpal synostosis, Humeroradial synostosis	OMIM:236410
Orofaciodigital Syndrome Type 2	Short tibia, Broad first metatarsal, Conductive hearing impairment, Bifid tongue, Micrognathia, T...	ORPHA:2751
Weaver Syndrome	Camptodactyly of finger, Retrognathia, Macrotia, Long philtrum, Deep philtrum, Finger syndactyly,...	ORPHA:3447
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory insufficiency, High palate, Hip contracture, Degeneration of anterior horn cells, Elb...	ORPHA:1145
Meier-Gorlin Syndrome 1	Coxa valga, Microdontia, Micrognathia, Camptodactyly, Elbow dislocation, Flat glenoid fossa, Clef...	OMIM:224690
Camptobrachydactyly	Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna...	ORPHA:1319
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cutaneous finger syndactyly, Cutaneous syndactyly o...	OMIM:225060
Diaphanospondylodysostosis	Cleft palate, Narrow pelvis bone, Myelomeningocele, Respiratory distress	ORPHA:66637
Tetrasomy 5P	Pulmonary arterial hypertension, Cyanosis, High palate, Long philtrum, Micrognathia, Talipes equi...	ORPHA:3309
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Optic atrophy, Wide mouth, Microdontia, Abnormal lip morphology, Micrognathia, Shor...	ORPHA:2707
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617526
Arthrogryposis, Distal, Type 3	Short phalanx of finger, Camptodactyly of finger, High palate, Ulnar deviation of the hand or of ...	OMIM:114300
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:617525
Mucopolysaccharidosis, Type Ix	Finger joint hypermobility, Bifid uvula, Submucous cleft hard palate, Recurrent otitis media, Ace...	OMIM:601492
Cardiocranial Syndrome, Pfeiffer Type	Umbilical hernia, Cutaneous syndactyly of toes, Temporomandibular joint ankylosis, Micrognathia, ...	ORPHA:2872
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ...	ORPHA:2141
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Talipes e...	ORPHA:65759
Hemifacial Microsomia With Radial Defects	Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ...	OMIM:141400
8Q22.1 Microdeletion Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Finger syndactyly, Submuco...	ORPHA:178303
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Buratti-Harel Syndrome	High palate, Microtia, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Cl...	OMIM:619314
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Vulvovaginal Gingival Syndrome	Parakeratosis	ORPHA:83453
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micrognathia, Respiratory distress, Macroglossia	ORPHA:1423
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Micrognathia, Respiratory distress, Frontalis muscle weakness, Respiratory insuffic...	OMIM:300580
Summitt Syndrome	Syndactyly	OMIM:272350
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Pfeiffer Syndrome Type 3	Hallux varus, High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Tracheoma...	ORPHA:93260
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B...	ORPHA:2554
Acrootoocular Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous...	ORPHA:2980
Ichthyosis, Congenital, Autosomal Recessive 10	Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker...	OMIM:615024
Schilbach-Rott Syndrome	Microtia, Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly...	OMIM:164220
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Accelera...	ORPHA:380
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans	OMIM:618527
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	2-3 toe syndactyly, Stapes ankylosis, Long philtrum, Coxa vara, Short femoral neck, Velopharyngea...	OMIM:614701
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Hand clenching, Knee flexion contracture, Hip contracture, Ulnar deviation of...	OMIM:108120
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Cree Mental Retardation Syndrome	Cleft soft palate, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Rocker bottom foot,...	OMIM:606851
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Camptodactyly of finger, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:212360
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Tularemia	Oral ulcer, Brain abscess, Anemia, Cutaneous abscess, Respiratory distress, Pleural effusion, Lym...	ORPHA:3392
Asbestos Intoxication	Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Clubbing of fingers, Reduced ...	ORPHA:2302
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, High palate, Thick lower lip vermilion, Bifid uvula, Submucous cle...	OMIM:617412
Mandibulofacial Dysostosis, Guion-Almeida Type	Conductive hearing impairment, Preaxial hand polydactyly, Deep philtrum, Microtia, Esophageal atr...	OMIM:610536
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Hyperkeratosis	ORPHA:90368
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short phalanx of finger, Dental malocclusion, Camptodactyly of finger, Broad femoral neck, High p...	OMIM:612350
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Pierre-Robin sequence, Micrognathia, Clinodactyly, Respiratory distress, Tracheomalacia, Anterior...	OMIM:217980
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ...	ORPHA:1275
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Trichorhinophalangeal Syndrome, Type Iii	Short phalanx of finger, Short metatarsal, Long philtrum, Avascular necrosis of the capital femor...	OMIM:190351
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou...	ORPHA:2521
Keratoderma Hereditarium Mutilans	Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Osteolysis, Hypogonadotropic hypogonadism, Hyp...	ORPHA:494
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, High palate, Sensorineural hearing impairment, Sudden ep...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, High palate, Sensorineural hearing impairment, Sudden ep...	ORPHA:98914
Laurin-Sandrow Syndrome	Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,...	OMIM:135750
Cutis Laxa, Autosomal Recessive, Type Iie	Genu varum, High palate, Long philtrum, Thick lower lip vermilion, Hip dislocation, Clinodactyly ...	OMIM:619451
Diamond-Blackfan Anemia 11	Anemia, Absent thumb, Neutropenia, Forearm reduction defects, Hypoplasia of the radius, Radioulna...	OMIM:614900
Filippi Syndrome	Optic atrophy, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Single ...	OMIM:272440
Cri-Du-Chat Syndrome	Optic atrophy, Premature graying of hair, Bifid uvula, Metatarsus adductus, Hearing impairment, O...	OMIM:123450
Hydrolethalus	Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous cleft hard pa...	ORPHA:2189
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	High palate, Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, Re...	ORPHA:254864
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Long philtrum, Finger syndactyly, Wide mouth, Deep philtrum, Abnormality of the wrist, Abnormal t...	ORPHA:1825
Peeling Skin Syndrome 6	Parakeratosis, Orthokeratosis	OMIM:618084
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Cleft upper lip, Joint contracture of the hand, Camptodactyly, Overlapping fingers, Cleft palate	OMIM:601016
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Sensorineural hearing impairment, Coxa valga, Finger syndactyly, Tibial torsion, Micr...	ORPHA:3320
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Sensorineural hearing impairment, Congenital thrombocytopenia, Short middle phalanx of th...	OMIM:616738
Agnathia-Otocephaly Complex	Conductive hearing impairment, Mandibular aplasia, Micrognathia, Respiratory distress, Tracheomal...	OMIM:202650
Double Outlet Right Ventricle	Cyanosis, Submucous cleft hard palate, Abnormality of cartilage of external ear, Intestinal malro...	ORPHA:3426
Meier-Gorlin Syndrome 5	Small earlobe, Long philtrum, Patellar aplasia, Microtia, Slender long bone, Micrognathia, Clinod...	OMIM:613805
Sclerosteosis	Sensorineural hearing impairment, Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved...	ORPHA:3152
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Long philtrum, Small hand, Submucous cleft hard palate, Respiratory distress, Thin u...	OMIM:612863
Ring Chromosome 21 Syndrome	Small hand, Thoracic hemivertebrae, Infertility, Clinodactyly, Azoospermia, Syndactyly, Narrow pa...	ORPHA:1445
Apnea, Central Sleep	Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration	OMIM:207720
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Microretrognathia, Adducted thumb, Low-set ears, Hypoplastic spleen, Rocker...	ORPHA:89844
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar blistering	ORPHA:89838
Boomerang Dysplasia	Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Abnormality of t...	ORPHA:1263
Spondyloepiphyseal Dysplasia Congenita	Pierre-Robin sequence, Coxa vara, Limited elbow movement, Delayed calcaneal ossification, Bifid u...	OMIM:183900
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Narrow mouth, Split hand, Cleft palate	OMIM:246560
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	2-3 toe syndactyly, Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Hydranenc...	OMIM:236500
Smith-Mccort Dysplasia 2	Short phalanx of finger, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Broad femoral neck...	OMIM:615222
Metaphyseal Acroscyphodysplasia	Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short palm, Short toe, Accelerated skele...	OMIM:250215
Say Syndrome	Cleft palate, Ulnar deviation of the 3rd finger, Tapered finger, Short distal phalanx of finger	OMIM:181180
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Metaphyseal c...	ORPHA:163966
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening	OMIM:613857
Microphthalmia, Syndromic 8	Cleft upper lip, Split foot, Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft	OMIM:601349
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Sensorineural hearing impairment, Nocturnal hypoventilation, Tongue at...	OMIM:211530
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hypoplasia of the distal phala...	ORPHA:94066
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Ichthyosis, Finger syndactyly, Kyphosis, Abnormality of the elbow, Vertebral segmentation defect,...	ORPHA:1005
Blepharonasofacial Malformation Syndrome	Non-midline cleft lip, Long philtrum, Optic atrophy, Finger syndactyly, External ear malformation...	ORPHA:1252
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Cleft palate, Abnormal metacarpal morphology, Glossoptosis	ORPHA:166100
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis	ORPHA:488191
Restrictive Dermopathy 2	Cyanosis, Hypoplastic facial bones, Respiratory distress, Microretrognathia, Overtubulated long b...	OMIM:619793
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis, Central apnea	ORPHA:71277
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Finger syndactyly, Death in infan...	ORPHA:989
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,...	OMIM:619164
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Hallux valgus, Optic atrophy, Cleft...	ORPHA:794
Periventricular Nodular Heterotopia 7	2-3 toe syndactyly, 1-4 toe syndactyly, Sensorineural hearing impairment, Pierre-Robin sequence, ...	OMIM:617201
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Intervertebral space narrowing, Genu valgum, Patellar dislocation, Short metacarpal, C...	OMIM:614078
Rapadilino Syndrome	Absent thumb, High palate, Aplasia/Hypoplasia of the radius, Cleft palate, High, narrow palate, A...	OMIM:266280
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy	OMIM:254120
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Cleft soft palate, Clinodactyly of the 5th finger, Thin upper lip vermilio...	OMIM:620183
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Distal foot symphalangism, Short phalanx of finger, Absent trapezoid bone, Absent trapezium, Apla...	OMIM:606895
Hemihyperplasia-Multiple Lipomatosis Syndrome	Foot polydactyly, Scoliosis, Macrodactyly, Hyperparakeratosis, 2-4 toe syndactyly	ORPHA:276280
Ichthyosis, Congenital, Autosomal Recessive 4B	Everted lower lip vermilion, Neonatal death, Short finger, Death in infancy	OMIM:242500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Macrotia, Tapered finger, Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finge...	OMIM:614407
Andersen Cardiodysrhythmic Periodic Paralysis	Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing...	OMIM:170390
Fanconi Anemia, Complementation Group O	Absent thumb, Death in infancy, Hypoplasia of the radius, Anal atresia, Miscarriage, Small thenar...	OMIM:613390
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Hypoventilation, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Res...	ORPHA:314655
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia, Lip discoloration, Exertional dyspnea	ORPHA:621
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin...	ORPHA:896
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Paradoxical respiration, High palate, Respiratory distress, Talipes equinovarus	OMIM:620011
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Abnormality of the plantar skin of foot	ORPHA:64745
Aarskog-Scott Syndrome	Short 5th finger, Radial deviation of finger, Curved linear dimple below the lower lip, Cleft pal...	OMIM:305400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Cutis marmorata, Large earlobe, Syndactyly, Smooth philtrum, Leukemia	OMIM:602501
Netherton Syndrome	Parakeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:256500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Widely spaced teeth, Clinodactyly, Syndactyly, Large fleshy ears, Arachnodactyly, L...	OMIM:619092
Severe X-Linked Mitochondrial Encephalomyopathy	Tongue fasciculations, Respiratory insufficiency, Respiratory distress	ORPHA:238329
Diamond-Blackfan Anemia 10	Anemia, Conductive hearing impairment, Reticulocytopenia, Microtia, Steroid-responsive anemia, Mi...	OMIM:613309
Hamel Cerebro-Palato-Cardiac Syndrome	Cleft palate, Arachnodactyly, Narrow mouth, Death in infancy	ORPHA:93946
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Finger syndactyly, Microtia, Micrognathia, Split hand, Brachydacty...	ORPHA:2145
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera...	ORPHA:199306
Osteoglophonic Dysplasia	Short phalanx of finger, Short metatarsal, Eruption failure, Mandibular prognathia, High palate, ...	OMIM:166250
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Macrotia, Narrow palate, Palmoplantar cutis gyrata, Optic atrophy, Aplasia/H...	ORPHA:1555
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe syndactyly, Shor...	ORPHA:93258
Pfeiffer Syndrome	Symphalangism affecting the phalanges of the hand, High palate, Finger syndactyly, Hip dysplasia,...	ORPHA:710
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, High palate, Long philtrum, Tapered finger, Micrognathia, Elbow flexion contracture...	OMIM:272430
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Kbg Syndrome	Bilateral conductive hearing impairment, Macrotia, Long philtrum, Oligodontia, Thin upper lip ver...	ORPHA:2332
Keratoconus Posticus Circumscriptus	Cleft upper lip, Clinodactyly of the 5th finger, Brachydactyly, Cleft palate, Limited elbow exten...	OMIM:244600
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th me...	OMIM:311300
Atelosteogenesis, Type Ii	Death in infancy, Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abnormal pelvic girdle b...	OMIM:256050
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Conductive hearing impairment, Finger syndactyly, Anal atresia, Carious teeth, Bil...	ORPHA:1997
Solitary Bone Cyst	Back pain, Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the l...	ORPHA:83468
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Cleft lo...	OMIM:268305
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Short 5th finger, Asthma, Micrognathia, Clinodactyly of the 5th finger, Small placen...	ORPHA:397590
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Short phalanx of finger, Genu valgum, Conductive hearing impairment, Coxa valga, Epiphyseal dyspl...	OMIM:132450
Arthrogryposis, Distal, Type 11	Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, Calcaneovalgus deform...	OMIM:620019
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundi...	ORPHA:226313
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short phalanx of finger, Pierre-Robin sequence, Sensorineural hearing impairment, Short 5th metac...	OMIM:215150
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio...	OMIM:119600
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow internal auditory canal, Mandibular aplasia, Respiratory distress, Synotia, Narrow mouth, ...	ORPHA:990
Neonatal Lupus Erythematosus	Parakeratosis, Hyperkeratosis	ORPHA:398124
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Conductive hearing impairment, Abnormal metaphysis morphology, Delayed eruption of ...	ORPHA:2780
Aase-Smith Syndrome I	Death in infancy, Slender finger, Cleft palate, Open mouth, Talipes equinovarus	OMIM:147800
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Abnormalit...	ORPHA:3098
Steel Syndrome	Coxa vara, Clinodactyly of the 5th finger, Carpal synostosis, Hip dislocation, Dislocated radial ...	OMIM:615155
Isolated Childhood Apraxia Of Speech	Submucous cleft hard palate, Overfolded helix, High, narrow palate	ORPHA:209908
Hypomelanosis Of Ito	Thick lower lip vermilion, Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger...	OMIM:300337
Psoriasis 14, Pustular	Parakeratosis, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Micrognathia, Short philtrum, Respiratory distress, Thin vermilion border	ORPHA:261304
Cranioectodermal Dysplasia	Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ...	ORPHA:1515
Acrocallosal Syndrome	Tapered finger, Everted upper lip vermilion, Optic atrophy, Toe syndactyly, Bifid uvula, Abnormal...	OMIM:200990
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Micrognathia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Postaxial hand polydactyly, Postaxial po...	OMIM:217085
Rapp-Hodgkin Syndrome	Conical tooth, Microdontia, Bifid uvula, Taurodontia, Supernumerary nipple, Decreased number of s...	OMIM:129400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Long philtrum, Hypoplasia of the radius, Respiratory distress, Syndactyly, Brac...	OMIM:617895
Cyanosis, Transient Neonatal	Cyanosis, Anemia, Jaundice, Reticulocytosis, Methemoglobinemia	OMIM:613977
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size,...	ORPHA:335
Craniofrontonasal Dysplasia	Camptodactyly of finger, High palate, Sensorineural hearing impairment, Finger syndactyly, Hand p...	ORPHA:1520
Blepharocheilodontic Syndrome 2	Conical tooth, Tooth agenesis, Cutaneous syndactyly, Cleft lip	OMIM:617681
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Underdeveloped antitragus, Cleft soft palate, Short philtrum, Prominent antihelix, ...	ORPHA:293725
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Scoliosis, Talipes, Hyperkeratosis, Genu recurvatum, Reduced bo...	ORPHA:2611
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Dubowitz Syndrome	Abnormal antihelix morphology, Respiratory insufficiency, Delayed eruption of teeth, Toe syndacty...	ORPHA:235
Laryngotracheal Angioma	Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Spinal muscular atrophy, type I, with congenital bone fractures	High palate, Degeneration of anterior horn cells, Respiratory distress, Congenital hip dislocatio...	OMIM:271225
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Brain abscess, Hypoxemia, Lung abscess, Clubbing, Inspiratory crackles, Restrictive ven...	OMIM:610910
Camptobrachydactyly	Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly	OMIM:114150
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis	ORPHA:79399
Moebius Syndrome	Microdontia, Micrognathia, Breast aplasia, Everted lower lip vermilion, Tooth agenesis, Cleft pal...	ORPHA:570
Limb-Mammary Syndrome	Aplasia of the ovary, Toe syndactyly, Hypodontia, Bifid uvula, 3-4 finger cutaneous syndactyly, C...	ORPHA:69085
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Conductive hearing impairment, Finger syndactyly, Delayed e...	ORPHA:1071
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Tapered finger, Long philtrum, Short foot, Postaxial polydactyly, Small hand, Hip dysplasia, Bifi...	OMIM:300968
Anencephaly 2	Median cleft lip, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Pde4D Haploinsufficiency Syndrome	Short phalanx of finger, Micrognathia, Broad hallux, Hearing impairment, Posteriorly rotated ears...	ORPHA:439822
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Kyphosis, Scoliosis, Joint contracture of the 5th finger, Arachnodactyly...	ORPHA:1883
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Kyph...	OMIM:136300
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Accessory oral frenul...	ORPHA:88630
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot polydactyly	OMIM:614120
Aplasia Cutis Congenita	Toe syndactyly, Spinal dysraphism, Finger syndactyly, Abnormality of bone mineral density	ORPHA:1114
Orofaciodigital Syndrome Type 6	Conductive hearing impairment, Micrognathia, Abnormal oral frenulum morphology, Cleft palate, Epi...	ORPHA:2754
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Aplastic clavicle, Kyphosis, Coronal craniosynostosis, Porokerato...	ORPHA:85199
Neurogenic Arthrogryposis Multiplex Congenita	Wrist flexion contracture, Hip contracture, Micrognathia, Elbow flexion contracture, Hip dislocat...	ORPHA:1143
Dyggve-Melchior-Clausen Disease	Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr...	OMIM:223800
Trichorhinophalangeal Syndrome Type 1 And 3	Camptodactyly of finger, Macrotia, High palate, Long philtrum, Avascular necrosis of the capital ...	ORPHA:77258
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus	ORPHA:2476
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Supernumerary nipple, Scapul...	OMIM:619122
Campomelic Dysplasia	Irregular dentition, Short phalanx of finger, Conductive hearing impairment, Spinal dysraphism, H...	OMIM:114290
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Cyanosis, Chronic pulmonary obstruction, Respiratory distress, P...	ORPHA:2414
Larsen Syndrome	Respiratory insufficiency, Conductive hearing impairment, Accessory carpal bones, Finger syndacty...	ORPHA:503
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Conductive hearing impairment, Sensorineural hearing impairment, Delayed eruption of teet...	OMIM:300990
Loeys-Dietz Syndrome 5	Retrognathia, Congenital finger flexion contractures, High palate, Cleft soft palate, Eosinophili...	OMIM:615582
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Cleft upper lip, Conductive hearing impairment, Hypoplasia of ...	OMIM:263750
Acquired Methemoglobinemia	Cyanosis, Hypoxemia, Respiratory distress, Vertigo, Dyspnea, Methemoglobinemia	ORPHA:464453
Menkes Disease	Thickened skin, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Wormian bones, Joint hyper...	ORPHA:565
Tarp Syndrome	Short sternum, High palate, Postaxial polydactyly, Optic atrophy, Microtia, Tongue nodules, Hypop...	OMIM:311900
Mckusick-Kaufman Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Postaxial foot polydactyly, Brachydactyly, Pos...	ORPHA:2473
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Stil...	OMIM:119800
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Microtia, Apla...	ORPHA:2839
Orofaciodigital Syndrome Type 1	Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Hand polydactyly, Clin...	ORPHA:2750
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ...	OMIM:142900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, High palate, Short long bone, Short lingual frenulum, Microdontia, Flat acetabular r...	OMIM:614091
Ritscher-Schinzel Syndrome 2	Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin...	OMIM:300963
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Optic atrophy, Flared iliac wing, Macroglossia, Acetabular dysplasia, Clubbin...	OMIM:617303
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Lip pit, Non-midline cleft lip	ORPHA:1072
Isolated Split Hand-Split Foot Malformation	Split hand, Absent hand, Finger syndactyly, Oligodactyly	ORPHA:2440
X-Linked Centronuclear Myopathy	Respiratory failure requiring assisted ventilation, Pneumonia, High palate, Respiratory distress	ORPHA:596
Pili Torti-Onychodysplasia Syndrome	Ectodermal dysplasia, Cleft lip, Abnormal pinna morphology, Cleft palate, Palmoplantar keratoderm...	ORPHA:2890
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	High palate, Long philtrum, Optic atrophy, Respiratory distress, Overlapping toe, Tented upper li...	OMIM:619383
Otospondylomegaepiphyseal Dysplasia	Short phalanx of finger, Sensorineural hearing impairment, Abnormal long bone morphology, Short m...	ORPHA:1427
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di...	ORPHA:457395
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Sensorineural hearing impairment, Petechiae, Radial bowing, Amegakaryocytic thrombocytopenia, Hip...	OMIM:605432
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Syndactyly, Tapered finger, Clinodactyly of the 5th finger	OMIM:618725
Summitt Syndrome	Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th...	ORPHA:3210
Cohen Syndrome	Tapered finger, Optic atrophy, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Cr...	ORPHA:193
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Finger syndactyly, Small hand, Micrognathia, Oligodontia, Supernumerary too...	ORPHA:1787
Acromesomelic Dysplasia 1	Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo...	OMIM:602875
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth	OMIM:217150
Gaucher Disease, Perinatal Lethal	Retrognathia, Anemia, Everted upper lip vermilion, Petechiae, Microtia, Micrognathia, Purpura, Re...	OMIM:608013
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Short phalanx of finger, Retrognathia, Abnormal hand morphology, Long philtrum, Small hand, Decre...	OMIM:300845
Rothmund-Thomson Syndrome, Type 1	Premature ovarian insufficiency, Male hypogonadism, Delayed skeletal maturation, Hyperkeratosis, ...	OMIM:618625
Hamamy Syndrome	Tapered finger, Micrognathia, Everted lower lip vermilion, Hypoparathyroidism, Smooth philtrum, H...	OMIM:611174
Amish Lethal Microcephaly	Cleft soft palate, Optic atrophy, Death in infancy, Spina bifida, Micrognathia	ORPHA:99742
Greig Cephalopolysyndactyly Syndrome	Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Preaxia...	OMIM:175700
Czeizel-Losonci Syndrome	Hypoplastic helices, High palate, Myelomeningocele, Prominent antitragus, 2-3 finger syndactyly, ...	ORPHA:2437
Atelosteogenesis Type Ii	Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Elb...	ORPHA:56304
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,...	ORPHA:70589
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Abnormal palate morphology, Overfolded helix, Low-set ears, Hear...	ORPHA:251046
Acquired Ichthyosis	Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	ORPHA:454
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Clinodactyly, Metaphyse...	OMIM:184250
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Sensorineural hearing impairment, Tapered finger, Finger syndactyly, Campt...	ORPHA:435938
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,...	ORPHA:2804
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Ichthyosis, Orthokeratosis	OMIM:607626
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Rubinstein-Taybi Syndrome	Respiratory insufficiency, High palate, Finger syndactyly, Hip dysplasia, Micrognathia, Clubbing ...	ORPHA:783
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi...	OMIM:612576
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Macrotia, High palate, Mandibular prognathia, Wide mouth, Widely spaced teeth, Clinodactyly, Camp...	ORPHA:369891
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Cutaneous finger syndactyly, Widely spaced teeth, 2-4 finger sy...	OMIM:613573
Cerebrocostomandibular Syndrome	Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion contracture, Cleft ...	OMIM:117650
Cenani-Lenz Syndrome	Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypodontia, Synostosis of carpal bones, Hyp...	ORPHA:3258
Smith-Mccort Dysplasia 1	Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit...	OMIM:607326
Desbuquois Dysplasia 2	Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Bifid uvula, Hip disl...	OMIM:615777
Branchiootorenal Syndrome 1	Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma...	OMIM:113650
Banki Syndrome	Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach...	ORPHA:1228
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr...	OMIM:610921
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Microretrognathia, Brachydactyly, ...	ORPHA:1786
Gaucher Disease Type 2	Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distress	ORPHA:77260
Sweeney-Cox Syndrome	Asplenia, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinovarus, Uplifted earlobe, C...	OMIM:617746
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Anemia, High palate, Sensorineural hearing impairment, Optic atrophy, Exertional dyspnea, Respira...	OMIM:220110
Orofaciodigital Syndrome Ix	Short tibia, High palate, Toe syndactyly, Camptodactyly, Hand polydactyly, Median cleft lip, Acce...	OMIM:258865
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	2-3 toe syndactyly, Cleft upper lip, Short 2nd finger, Short 5th finger, Broad hallux, Thin upper...	OMIM:600987
Dwarfism With Stiff Joints And Ocular Abnormalities	Short phalanx of finger, Thickened skin, Short lower limbs, Delayed ossification of carpal bones,...	OMIM:127200
Acrofrontofacionasal Dysostosis 2	High palate, Hand polydactyly, Broad hallux, Syndactyly, Broad thumb, Low-set ears, Overfolded he...	OMIM:239710
Meckel Syndrome 14	Retrognathia, Cyanosis, Pneumothorax, Micrognathia, Microretrognathia, Postaxial foot polydactyly...	OMIM:619879
Pgm3-Cdg	Conductive hearing impairment, T lymphocytopenia, Bronchiectasis, Bone marrow hypocellularity, Eo...	ORPHA:443811
Myopathy And Diabetes Mellitus	Shoulder girdle muscle weakness, Sensorineural hearing impairment, Respiratory distress, Hyporefl...	ORPHA:2596
Achondroplasia	Genu varum, Conductive hearing impairment, Short femoral neck, Death in infancy, Radial bowing, U...	OMIM:100800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Sensorineural hearing impairment, Bifid uvula, Cutis marmorata, Protruding tongue, ...	OMIM:612938
Apert Syndrome	Morphological abnormality of the semicircular canal, Respiratory insufficiency, Aplasia/Hypoplasi...	ORPHA:87
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio...	ORPHA:2741
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Clinodactyly of the 5th finger, Intestinal malrotation, Syndactyly, Testicular at...	OMIM:601163
Blackfan-Diamond Anemia	Acute myeloid leukemia, Absent thumb, Cleft soft palate, Micrognathia, Thrombocytopenia, Normochr...	ORPHA:124
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormal appe...	ORPHA:2583
Martsolf Syndrome 1	Short phalanx of finger, Finger joint hypermobility, Micrognathia, Tracheomalacia, Metatarsus add...	OMIM:212720
Erythrokeratodermia Variabilis	Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Tapered finger, Brachydactyly	ORPHA:317
Synaptic Congenital Myasthenic Syndromes	Respiratory insufficiency, Pulmonary arterial hypertension, Mandibular prognathia, High palate, E...	ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Respiratory distress, Cryptorchidism, Thrombocytopenia, Death in childhood	OMIM:615597
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, High palate, Death in infancy, Bilateral cryptorchidism, Respiratory distress, Unil...	OMIM:300219
Native American Myopathy	Respiratory insufficiency, Conductive hearing impairment, High palate, Micrognathia, Bifid uvula,...	ORPHA:168572
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormal forearm morphology, Hyperkeratosis, Abnormality of the wrist, Abnormality of the elbow	ORPHA:89843
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Infantile sensorineural hearing impairment, Respiratory failure, Venti...	ORPHA:254875
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, Sensorineural hearing impairment, Long philtrum, T lymphocytopenia...	OMIM:615966
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Death in infancy, Clubbing, Apnea, Dyspnea, Respirator...	OMIM:265120
Immunodeficiency 49	T lymphocytopenia, Natal tooth, Micrognathia, Short philtrum, Decreased proportion of naive CD4 T...	OMIM:617237
Kury-Isidor Syndrome	High palate, Long philtrum, Finger syndactyly, Widely spaced teeth, Hip dysplasia, Recurrent otit...	OMIM:619762
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm...	OMIM:608670
Mogs-Cdg	Retrognathia, Hypoventilation, High palate, Sensorineural hearing impairment, Optic atrophy, Abse...	ORPHA:79330
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, T lymphocytopenia, Selective tooth agenesis, Hypodontia, Micrognathia, Bifid...	ORPHA:2959
Staphylococcal Necrotizing Pneumonia	Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn...	ORPHA:36238
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture, Scoliosis	OMIM:619091
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Abnormal mucociliary clearance, Chronic otitis media, Bronchiectasis, Respiratory distress	OMIM:619466
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Cleft palate, Finger syndactyly, Toe syndactyly	ORPHA:261272
Malaria	Anemia, Thrombocytopenia, Respiratory distress	ORPHA:673
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Microtia, Camptodactyly, Syndactyly, Narrow mouth, Hearing impairment, Intes...	OMIM:616006
Lethal Acantholytic Erosive Disorder	Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, Clinodactyly of ...	ORPHA:158687
Chromosome 8Q22.1 Duplication Syndrome	Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti...	OMIM:151200
Stickler Syndrome, Type I	Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Micrognat...	OMIM:108300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Short phalanx of finger, Short palm, Delayed epiphyseal ossification, ...	OMIM:611717
Cranioectodermal Dysplasia 4	Decreased nasal nitric oxide, Cutaneous finger syndactyly, Hip dysplasia, Taurodontia, Recurrent ...	OMIM:614378
Bohring-Opitz Syndrome	Tapered finger, Micrognathia, Camptodactyly, Supernumerary nipple, Overlapping toe, Dislocated ra...	OMIM:605039
Radio-Renal Syndrome	Retrognathia, Abnormality of the elbow, Hypoplasia of the radius, Micrognathia, Respiratory distr...	ORPHA:3015
Combined Oxidative Phosphorylation Deficiency 30	Sensorineural hearing impairment, Respiratory distress, Death in infancy	OMIM:616974
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Optic atrophy	ORPHA:26792
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, High palate, Optic atrophy, Natal tooth, Palmoplantar cutis laxa, Bifid uvula, Res...	OMIM:123790
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti...	OMIM:615518
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Asthma, Recurrent sinusitis, Anal canal squamous carcinoma,...	ORPHA:217390
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Malabsorption, Micrognathia...	OMIM:242860
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Macrotia, Mandibular prognathia, Wide mouth, Thick vermilion border, Bifid uvula, Clinodactyly of...	OMIM:618505
Crane-Heise Syndrome	Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Short distal phalanx of finge...	ORPHA:1512
Immunodeficiency 19	Abnormal natural killer cell morphology, Abnormal B cell morphology, T lymphocytopenia, Recurrent...	OMIM:615617
Feingold Syndrome	Sensorineural hearing impairment, Hallux valgus, Esophageal atresia, Toe syndactyly, Micrognathia...	ORPHA:1305
Pitt-Hopkins Syndrome	Tapered finger, Supernumerary nipple, Abnormal pattern of respiration, Cryptorchidism, Esophagiti...	ORPHA:2896
Marbach-Schaaf Neurodevelopmental Syndrome	Tapered finger, Submucous cleft hard palate, Recurrent otitis media, Thin upper lip vermilion, Do...	OMIM:619680
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Braddock-Carey Syndrome 2	Cleft palate, Clinodactyly, Pierre-Robin sequence, Wide mouth	OMIM:619981
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Birk-Barel Syndrome	High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Short philtrum, Microretrognathia,...	OMIM:612292
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Conductive hearing impairment, Microtia, third degree, Micrognathia, Bif...	ORPHA:2753
Avian Influenza	Leukopenia, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Lymphopenia, Miscarr...	ORPHA:454836
Diaphanospondylodysostosis	Respiratory insufficiency, Micrognathia, Narrow pelvis bone, Tracheomalacia, Respiratory distress...	OMIM:608022
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:254210
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Conductive hearing impairment, Tapered finger, Abnormal mandible morphol...	ORPHA:2215
Myhre Syndrome	Mandibular prognathia, Abnormal metaphysis morphology, Large iliac wing, Gingival cleft, Abnormal...	ORPHA:2588
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Macrotia, Ectodermal dysplasia, Finger syndactyly, Toe syndactyly, Hypodontia, A...	ORPHA:3253
Bethlem Myopathy	Camptodactyly of finger, Wrist flexion contracture, Flexion contracture, Multiple joint contractu...	ORPHA:610
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft palate, Cleft lip	OMIM:612370
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea	OMIM:263000
Opitz-Kaveggia Syndrome	Micrognathia, Camptodactyly, Broad hallux, Radial deviation of finger, Cleft palate, Narrow palat...	OMIM:305450
Ectodermal Dysplasia With Mental Retardation And Syndactyly	2-3 toe syndactyly, Ectodermal dysplasia, Abnormality of the ear, Open mouth, 3-4 finger syndactyly	OMIM:600906
Meckel Syndrome, Type 5	Cleft upper lip, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Bowing of ...	OMIM:611561
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Pseudoepiphyses, Fused cervical vertebrae, Carpal synostosis, Join...	OMIM:157800
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia...	OMIM:610913
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Hallux valgus, Microdontia, Micrognathia, Tracheomalacia, Talipes equi...	ORPHA:536467
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Long philtrum, Finger syndactyly, Toe syndactyly, Cryptorchidism, Arachnodactyly, L...	ORPHA:73246
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia...	OMIM:192445
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis, Miscarriage	ORPHA:3406
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Optic atrophy, Respiratory distress, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Fg Syndrome Type 1	Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pituitary gland,...	ORPHA:93932
Acute Interstitial Pneumonia	Cyanosis, Reduced hematocrit, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Lymphadenopa...	ORPHA:79126
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Elevated circulat...	OMIM:610978
Intellectual Developmental Disorder, Autosomal Dominant 58	Macrotia, High palate, Wide mouth, Submucous cleft hard palate, Single transverse palmar crease, ...	OMIM:618106
Anaplastic Thyroid Carcinoma	Nodular goiter, Respiratory distress, Tracheoesophageal fistula, Lymphadenopathy, Upper airway ob...	ORPHA:142
Arterial Tortuosity Syndrome	Coxa valga, Hip dislocation, Abnormal zygomatic bone morphology, Prematurely aged appearance, Lon...	ORPHA:3342
Esophageal Atresia	Cyanosis, Barrett esophagus, Aspiration, Abnormality of the ear, Pyloric stenosis, Clinodactyly, ...	ORPHA:1199
Pfeiffer Syndrome	Short middle phalanx of toe, High palate, Finger syndactyly, Humeroradial synostosis, Elbow ankyl...	OMIM:101600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,...	OMIM:151210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:605809
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Tracheomalacia, Pe...	OMIM:612561
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Cleft palate, Non-midline cleft lip	ORPHA:1484
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e...	OMIM:257850
Pachyonychia Congenita	Angular cheilitis, Natal tooth, Advanced eruption of teeth, Palmoplantar hyperhidrosis, Respirato...	ORPHA:2309
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Arthrogryposis, Distal, Type 2B1	Camptodactyly of finger, Absent phalangeal crease, Distal arthrogryposis, Ulnar deviation of the ...	OMIM:601680
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Over...	OMIM:619148
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, Angioedema, ...	ORPHA:100057
Acromesomelic Dysplasia 4	Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi...	OMIM:619636
Sjögren-Larsson Syndrome	Ichthyosis, Kyphosis, Joint stiffness, Scoliosis, Hyperkeratosis	ORPHA:816
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Respiratory insufficiency, Abnormal autonomic nervous syste...	OMIM:601559
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ...	OMIM:148700
Pleural Mesothelioma	Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Lymphadenopathy, ...	ORPHA:50251
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sensorineural hearing impairment, Tapered finger, Finger joint hypermobility, Hypodontia, Hip dys...	ORPHA:544503
De Sanctis-Cacchione Syndrome	Parakeratosis, Equinovarus deformity, Bilateral coxa valga	OMIM:278800
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, High palate, Optic atrophy, Deep philtrum, Micrognathia, Respiratory distres...	ORPHA:329178
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Broad hallux, Syndactyly...	OMIM:212780
Ichthyosis, Hystrix-Like, With Deafness	Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, Pes cavus, Palmoplantar...	OMIM:602540
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Enthesitis-Related Juvenile Idiopathic Arthritis	Sacroiliac arthritis, Abnormality of the calcaneus, Hip osteoarthritis, Abnormality of the wrist,...	ORPHA:85438
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Anal atresia, Syndactyly, Lo...	OMIM:220210
Rhizomelic Chondrodysplasia Punctata, Type 2	High palate, Micrognathia, Epiphyseal stippling, Submucous cleft hard palate, Short humerus, Opti...	OMIM:222765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Optic atrophy, Respiratory distress, Thrombocytopenia, Neutropenia	ORPHA:289916
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Sensorineural hearing impairment, Tapered finger, Deep philtrum, 2-3 finge...	ORPHA:435638
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Hypodontia, Clinodactyly, Anal atresia, Cutaneous syndactyly	OMIM:119580
Mitochondrial Pyruvate Carrier Deficiency	Thin upper lip vermilion, Long philtrum, Respiratory distress	OMIM:614741
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly, Hemi...	OMIM:173800
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Finger syndactyly, Kyphosis, Abnormality of the humerus, Abnor...	ORPHA:392
Atelosteogenesis, Type Iii	Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Hitchhiker thumb, Elbow...	OMIM:108721
Doors Syndrome	Short 5th finger, Optic atrophy, Short lingual frenulum, Adrenal hyperplasia, Spina bifida occult...	ORPHA:79500
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Metaphyseal sclerosis, Coxa vara, Narrow greater sciatic notch, R...	OMIM:260400
Lenz-Majewski Hyperostotic Dwarfism	Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Short palm, Prematurely aged appearanc...	ORPHA:2658
Craniosynostosis 2	Triphalangeal thumb, Supernumerary tooth, Cleft soft palate, Brachydactyly	OMIM:604757
Marshall Syndrome	Thick upper lip vermilion, Coxa valga, Micrognathia, Bifid uvula, Irregular distal femoral epiphy...	OMIM:154780
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Cryptorchidism, Cleft palate,...	ORPHA:250999
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio...	ORPHA:251014
Chromosome 8Q21.11 Deletion Syndrome	Sensorineural hearing impairment, High palate, Short metacarpal, Micrognathia, Short philtrum, Ca...	OMIM:614230
Frontometaphyseal Dysplasia	Short diaphyses, Wrist flexion contracture, Short phalanx of finger, Conductive hearing impairmen...	ORPHA:1826
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Pes planus, Scoliosis, Distal lower limb muscle weakness	OMIM:615284
Harlequin Ichthyosis	Ichthyosis, Foot polydactyly, Hand polydactyly, Limitation of joint mobility, Hyperkeratosis, Con...	ORPHA:457
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Micrognathia, Hypoplasia of...	ORPHA:2256
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Cholelithiasis, Hemolytic anemia, Death in infancy, Normocytic anemia,...	OMIM:615512
Sepsis In Premature Infants	Cyanosis, Anemia, Enterocolitis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system ...	ORPHA:90051
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Ulnar deviation of the hand, Microgn...	OMIM:612651
Triploidy	Meningocele, Non-midline cleft lip, Finger syndactyly, Wide mouth, Micrognathia, Macroglossia, In...	ORPHA:3376
Proteus Syndrome	Hypertrophy of skin of soles, Kyphoscoliosis, Spinal canal stenosis, Hyperkeratosis	OMIM:176920
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft palate, Clinodactyly, Cleft lip	OMIM:614838
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent otitis media, Recurrent pneumonia, S...	ORPHA:277
Slc35A1-Cdg	Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Abnormal platelet granules, ...	ORPHA:238459
Hidrotic Ectodermal Dysplasia	Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos...	ORPHA:189
Roberts Syndrome	Wrist flexion contracture, Micrognathia, Phocomelia, Radial deviation of finger, Cleft palate, Th...	ORPHA:3103
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Bifid uvula, Submucous cleft hard palate	OMIM:619239
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Joint hypermobility, Kyphoscoliosis, Osteopenia, Follicular hyperkeratosis, Pes planus	ORPHA:300179
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Stillbirth	OMIM:263630
Platyspondylic Dysplasia, Torrance Type	Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Hypoplastic pelvis, Hypoplasia of th...	ORPHA:85166
Spondyloepimetaphyseal Dysplasia, X-Linked	Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi...	OMIM:300106
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Hallux valgus, Finger syndactyly, Death in infancy, Toe...	ORPHA:2008
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Fused cervical vertebrae, Parakeratosis, Overlapping toe, Contracture o...	ORPHA:83617
Chilblain Lupus	Finger swelling, Hyperkeratosis	ORPHA:90280
Laurence-Moon Syndrome	Sensorineural hearing impairment, Finger syndactyly, Hand polydactyly, Abnormal antitragus morpho...	ORPHA:2377
Oliver Syndrome	Small earlobe, Dental malocclusion, Camptodactyly of finger, Short toe, High palate, Mandibular p...	ORPHA:2920
Wiedemann-Steiner Syndrome	Short phalanx of finger, 2-3 toe syndactyly, Short toe, High palate, Long philtrum, Tapered finge...	OMIM:605130
Ichthyosis, Congenital, Autosomal Recessive 2	Short toe, Short finger, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoder...	OMIM:242100
Ullrich Congenital Muscular Dystrophy 1	Hyperextensibility at wrists, Flexion contracture, Kyphosis, Increased laxity of fingers, Spinal ...	OMIM:254090
Bartsocas-Papas Syndrome	Absent thumb, Finger syndactyly, Toe syndactyly, Median cleft lip, Narrow mouth, Aplasia/Hypoplas...	ORPHA:1234
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Finger syndactyly, Clinodactyly, Brachydactyly, Thin upper lip ...	ORPHA:313781
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Pulmonary arterial hypertension, Cleft soft palate, Microtia, Micrognathia, Hypoxemia, Submucous ...	ORPHA:2282
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Hypoplasia of the ulna...	OMIM:601376
Autosomal Dominant Epidermolytic Ichthyosis	Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis	ORPHA:312
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Cyanosis, Sensorineural hearing impairment, Short lingual frenulum, Decreased...	ORPHA:2326
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Arrhinencephaly, Talipes equinovarus, Radioulnar synostosis, Abnormal pelvic g...	ORPHA:1788
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Optic atrophy, Hyposegmentation of neutrophil nuclei, Broad hallux, Syndactyly, Si...	OMIM:614800
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Sensorineural hearing impairment, Finger syndactyly, Toe syndactyly, Abnormal metacarpal morpholo...	ORPHA:3224
Stt3B-Cdg	Thrombocytopenia, Respiratory distress, Optic atrophy, Cryptorchidism	ORPHA:370924
Acromesomelic Dysplasia 2B	Short phalanx of finger, Short metatarsal, Malaligned carpal bone, Short metacarpal, Patellar dis...	OMIM:228900
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo...	ORPHA:1908
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Dumbbell-shaped long bone, Short femur, Femoral bowing, Metaphyseal widening, Brachydactyly, Clef...	ORPHA:440354
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ...	OMIM:619217
Prader-Willi Syndrome Due To Translocation	Micrognathia, Bifid uvula, Everted lower lip vermilion, Overlapping toe, Alveolar ridge overgrowt...	ORPHA:177907
Bardet-Biedl Syndrome 9	Irregular menstruation, Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Posta...	OMIM:615986
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl...	OMIM:615631
Teebi-Shaltout Syndrome	Small earlobe, Hypoplastic helices, Wide mouth, High, narrow palate, Oligodontia, Talipes equinov...	OMIM:272950
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Optic atrophy, Toe...	ORPHA:2710
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Tapered finger, Cleft soft palate, Microdontia, Reduced subcutaneous adipose tissue, Smooth philt...	OMIM:619950
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Absent thumb, Coxa valga, Micrognathia, Hip dislocation, Hepatosplenomeg...	OMIM:274000
Cole Disease	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H...	OMIM:615522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, High palate, Respiratory distress, External ear malformation, Thin upper lip...	ORPHA:438216
Hand-Foot-Genital Syndrome	Sacral dimple, Short first metatarsal, Short 1st metacarpal, Synostosis of carpal bones, Clinodac...	ORPHA:2438
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, High palate, Postaxial polydactyly, Aganglionic megacolon, Hypodo...	OMIM:174300
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Cyanosis, Brain abscess, Telangiectasia, Pleural empyema, Hemoth...	ORPHA:2038
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	High palate, Death in infancy, Irregular respiration, Respiratory distress, Inspiratory stridor	OMIM:604377
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long philtrum, Long fingers, Short philtrum, Underfolded helix, Large earlobe, Intestinal malrota...	OMIM:618316
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ...	ORPHA:2475
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Micr...	OMIM:609945
Curry-Jones Syndrome	Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Toe syndactyly, Intestinal malrot...	ORPHA:1553
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Broad distal phalanx of the toes, Everted lower lip vermilion, Overlapping to...	ORPHA:464738
Schinzel-Giedion Syndrome	Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Camptodactyl...	ORPHA:798
Mosaic Trisomy 1	Camptodactyly of finger, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion contracture, Absent...	ORPHA:1692
19P13.12 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Long philtrum, Finger syndactyly...	ORPHA:254346
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, High palate, Syndactyly, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Umbi...	OMIM:614520
Pallister-Hall Syndrome	Short 4th metacarpal, Toe syndactyly, Hip dislocation, Postaxial hand polydactyly, Cleft palate, ...	OMIM:146510
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Primary amenorrhea, Broad foot, Humeroradial synostosis, Joint contracture of the hand, Camptodac...	OMIM:201750
Moynahan Syndrome	Hyperkeratosis, Hypogonadism	ORPHA:2574
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Hand clenching, Apnea, Protruding tongue, Hearing impairment	OMIM:619580
Desmosterolosis	Retrognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Large earlobe, Intestinal m...	ORPHA:35107
Ivic Syndrome	Limited interphalangeal movement, Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limi...	OMIM:147750
Apert Syndrome	Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Postaxial hand pol...	OMIM:101200
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,...	ORPHA:2634
Robinow Syndrome, Autosomal Dominant 3	Short phalanx of finger, Dental malocclusion, Bifid tongue, Long philtrum, Micrognathia, Clinodac...	OMIM:616894
Orofaciodigital Syndrome I	Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt...	OMIM:311200
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Pierre-Robin sequence, Decreased response to growth hormone stimulation test, Aspiration, Microdo...	ORPHA:96182
Choanal Atresia	Cyanosis, Polydactyly, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obst...	ORPHA:137914
Goldberg-Shprintzen Megacolon Syndrome	Aganglionic megacolon, Macrotia, Finger syndactyly, Cleft palate	ORPHA:66629
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro...	ORPHA:958
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Acrodysostosis 1 With Or Without Hormone Resistance	Short phalanx of finger, Optic atrophy, Delayed eruption of teeth, Epiphyseal stippling, Dislocat...	OMIM:101800
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Neonatal death, Aplasia of the ulna	OMIM:276822
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Bifid tongue, Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Abs...	OMIM:613091
Folinic Acid-Responsive Seizures	Apnea, Sensorineural hearing impairment, Respiratory distress, Optic atrophy	ORPHA:79097
Lenz-Majewski Hyperostotic Dwarfism	Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida occulta, Cleft pal...	OMIM:151050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,...	OMIM:617660
Multiple Pterygium Syndrome, Escobar Variant	Conductive hearing impairment, Micrognathia, Hip dislocation, Camptodactyly, Dislocated radial he...	OMIM:265000
Eec Syndrome	Hypoplasia of the thymus, Toe syndactyly, Microdontia, Anterior hypopituitarism, Taurodontia, Too...	ORPHA:1896
Ruvalcaba Syndrome	Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Cryptorchidi...	OMIM:180870
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Micrognathia, Elbow dislocat...	ORPHA:1507
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Crypto...	OMIM:619103
Nijmegen Breakage Syndrome	2-3 toe syndactyly, Cleft upper lip, Macrotia, T lymphocytopenia, Deep philtrum, B lymphocytopeni...	OMIM:251260
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Genu valgum, Asthma, Abnormal autonomic nervous system physiology, Elbow...	ORPHA:3206
Rubinstein-Taybi Syndrome 1	Polydactyly, Micrognathia, Flared iliac wing, Duplication of phalanx of hallux, Dislocated radial...	OMIM:180849
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Finger syndactyly, Vertebral segmentation defect, Synosto...	ORPHA:1323
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Lymphadenopathy,...	OMIM:615513
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha...	ORPHA:2636
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Adnp Syndrome	2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Microtia, Thick lower lip vermilion,...	ORPHA:404448
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Hypoxemia, Clubbing...	ORPHA:199241
Hereditary Angioedema Type 1	Abnormal uvula morphology, Dermatographic urticaria, Intestinal edema, Respiratory distress, Abno...	ORPHA:100050
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, T lymphocytopenia, Abnormal B cell morphology, Decreased response to growth hormon...	OMIM:618223
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Acrokeratoelastoidosis Of Costa	Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Abnorma...	ORPHA:38
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Chitayat Syndrome	Hallux valgus, Respiratory distress, Brachydactyly, Tracheomalacia, Thick vermilion border	OMIM:617180
8Q21.11 Microdeletion Syndrome	Camptodactyly of finger, High palate, Finger syndactyly, Micrognathia, Abnormal metacarpal morpho...	ORPHA:284160
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Meningocele, Respiratory insufficiency, Finger syndactyly, Long philtrum...	ORPHA:2311
Ring Chromosome 12 Syndrome	Microtia, Clinodactyly, Abnormal 5th finger morphology, Breast hypoplasia, Syndactyly, Cryptorchi...	ORPHA:1439
Arboleda-Tham Syndrome	Optic atrophy, Recurrent aspiration pneumonia, Prominent antihelix, Short hallux, Anteverted ears...	OMIM:616268
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Orofaciodigital Syndrome Iii	Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta...	OMIM:258850
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Brain abscess, Palmoplantar cutis laxa, Respiratory distress, Re...	OMIM:616482
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Hypodontia, Supernumerary tooth, A...	OMIM:617088
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Otitis media, Pneumonia	OMIM:601457
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Microdontia, Elbow flexion contracture, Supernumerary nipple, Broad distal phalanx of the toes, T...	OMIM:619194
Joubert Syndrome 33	Apnea, Syndactyly, Splenomegaly	OMIM:617767
Craniofaciofrontodigital Syndrome	Pulmonary arterial hypertension, Palmoplantar cutis laxa, Long philtrum, Finger joint hypermobili...	ORPHA:363705
Walker-Warburg Syndrome	Metatarsus valgus, Optic atrophy, Bifid uvula, Protruding ear, Submucous cleft hard palate, Crypt...	ORPHA:899
Branchioskeletogenital Syndrome	Bifid uvula, Amelia involving the lower limbs, Periorbital wrinkles, Absent nipple, Attached earl...	ORPHA:1299
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short phalanx of finger, Short toe, Gingival hyperkeratosis, Hypodontia, Micrognathia, Bruising s...	OMIM:225410
Alkuraya-Kucinskas Syndrome	Hand clenching, High palate, Micrognathia, Talipes equinovarus, Camptodactyly, Clinodactyly, Over...	OMIM:617822
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Narrow palate, High palate, Wide mouth, Microtia, Deep philtrum, Camptodacty...	OMIM:227330
Adams-Oliver Syndrome 6	Foot oligodactyly, Cutis marmorata, Syndactyly, Brachydactyly, Esophageal varix, Splenomegaly	OMIM:616589
Acromelic Frontonasal Dysostosis	Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Encephalocele, Preaxial foot poly...	OMIM:603671
Rhombencephalosynapsis	Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E...	ORPHA:59315
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Van Maldergem Syndrome 2	Irregular dentition, Hip subluxation, Conductive hearing impairment, Short 4th metacarpal, Microg...	OMIM:615546
Neu-Laxova Syndrome 2	High palate, Finger syndactyly, Toe syndactyly, Spina bifida, Micrognathia, Rocker bottom foot, L...	OMIM:616038
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Micrognathia, Hip dis...	OMIM:154400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Optic atrophy, Death in infancy, Respiratory distress, Respiratory fai...	OMIM:614299
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, S...	ORPHA:1001
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Monosomy 22	Retrognathia, High palate, Long philtrum, Finger syndactyly, Clinodactyly of the 5th finger, Hepa...	ORPHA:96123
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Ruvalcaba Syndrome	Cone-shaped epiphysis, Abnormality of the elbow, Kyphosis, Short metacarpal, Small hand, Synostos...	ORPHA:3121
Ichthyosis, Congenital, Autosomal Recessive 3	Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Hyperkeratos...	OMIM:606545
Dubowitz Syndrome	High palate, Delayed eruption of teeth, Micrognathia, Velopharyngeal insufficiency, Submucous cle...	OMIM:223370
Microphthalmia With Brain And Digit Anomalies	High palate, Finger syndactyly, Sensorineural hearing impairment, Postaxial foot polydactyly, Pro...	ORPHA:139471
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory insufficiency, Respiratory distress, Hepatosplenomegaly, Esophageal varix, Abnormal n...	ORPHA:367
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Peeling Skin Syndrome 4	Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Hyperker...	OMIM:615023
Microphthalmia, Lenz Type	Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Abnormality of...	ORPHA:568
Rare Circulatory System Disease	Cyanosis, Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morphology, Elbow f...	ORPHA:98028
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D...	ORPHA:60032
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Genu valgum, Micrognathia, Pyloric stenosis, Tibial bowing, Respirator...	OMIM:613848
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Cleft palate, Polydactyly, Postaxial foot polydactyly	OMIM:607361
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Sclerosteosis 1	Dental malocclusion, Tooth malposition, Mandibular prognathia, Optic atrophy, Facial palsy second...	OMIM:269500
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Hypoxemia, Clubbing, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decrease...	ORPHA:747
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Micrognathia, Cyanotic episode	ORPHA:284417
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Abnormal pelvis bone ossification, Cleft palate, Orofacial cleft, Aceta...	ORPHA:1505
Infant Acute Respiratory Distress Syndrome	Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea	ORPHA:70587
19Q13.11 Microdeletion Syndrome	Retrognathia, Finger syndactyly, Wide mouth, Toe syndactyly, Clinodactyly of the 5th finger, Supe...	ORPHA:217346
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp...	ORPHA:264675
Laryngeal Abductor Paralysis	Cyanosis, Stridor, Talipes equinovarus	OMIM:150260
3C Syndrome	Finger syndactyly, Optic atrophy, Ectopic anus, Death in infancy, Micrognathia, Hand polydactyly,...	ORPHA:7
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Rothmund-Thomson Syndrome Type 2	Short phalanx of finger, Delayed eruption of teeth, Microdontia, Metaphyseal striations, Tooth ag...	ORPHA:221016
Singleton-Merten Syndrome 2	Osteolytic defects of the phalanges of the hand, Scoliosis, Joint subluxation, Osteopenia, Hyperk...	OMIM:616298
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short phalanx of finger, High palate, Acroosteolysis of distal phalanges (feet), Micrognathia, De...	OMIM:608612
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Cleft soft palate, Optic atrophy, Decreased testicular size, Optic nerve hypoplasia,...	OMIM:619321
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Increased susceptibility to fractures, Advanced ossification of carpal bones, Hypoplastic ilia, H...	OMIM:615349
Trisomy 20P	Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Abnormal autonomic nervous ...	ORPHA:261318
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip	ORPHA:2736
Congenital Tracheomalacia	Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Cyanosis, Pneu...	ORPHA:95430
Cantú Syndrome	Coxa valga, Finger syndactyly, Abnormal metaphysis morphology, Cuboid-shaped vertebral bodies, Ac...	ORPHA:1517
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea, St...	OMIM:612310
Leopard Syndrome 3	Epidermal hyperkeratosis, Short neck, Delayed skeletal maturation, Cubitus valgus, Hyperkeratosis	OMIM:613707
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pulmonary arterial hypertension, Micrognathia, Central sleep apnea, Talipes equinovarus, Camptoda...	OMIM:620029
Silver-Russell Syndrome 3	Retrognathia, Small hand, Clinodactyly of the 5th finger, Syndactyly, Unilateral cryptorchidism, ...	OMIM:616489
Mgat2-Cdg	Respiratory distress, Prominent antihelix, Impaired lymphocyte transformation with phytohemagglut...	ORPHA:79329
Treacher Collins Syndrome 1	Conductive hearing impairment, Cleft soft palate, Wide mouth, Microtia, Abnormal parotid gland mo...	OMIM:154500
Multiple Carboxylase Deficiency	Tachypnea, Hearing impairment, Optic atrophy, Respiratory distress	ORPHA:148
Cardiofaciocutaneous Syndrome 1	Optic nerve dysplasia, Dental malocclusion, Splenomegaly, High palate, Deep philtrum, Hyperextens...	OMIM:115150
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, T lymphocytopenia, B lymphocytopenia, Bronch...	OMIM:618108
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia...	OMIM:606763
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Short middle phalanx of the 5th finger, Mi...	OMIM:180860
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Abnormality of the ear, Velopharyngeal insufficiency, Submuc...	OMIM:192430
Nicolaides-Baraitser Syndrome	Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo...	OMIM:601358
Heyn-Sproul-Jackson Syndrome	Short phalanx of finger, Broad phalanx, Broad metacarpals, Short metacarpal	OMIM:618724
Orofaciodigital Syndrome Vi	Toe syndactyly, Short femur, Radial deviation of finger, Postaxial hand polydactyly, Cleft palate...	OMIM:277170
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, High palate, Bifid tongue, Abnormal oral frenulum...	ORPHA:1752
Succinic Acidemia	Respiratory distress	OMIM:600335
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Oligomenorrhea	OMIM:617442
Laryngotracheoesophageal Cleft	Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress	ORPHA:2004
Waardenburg Syndrome, Type 3	Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Clinodactyly...	OMIM:148820
Vertical Talus, Congenital	Calcaneovalgus deformity, Equinus calcaneus, Rocker bottom foot, Arthritis	OMIM:192950
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia, Protruding ear, Tooth malposition	OMIM:268320
Bardet-Biedl Syndrome 1	High palate, Foot polydactyly, Hypodontia, Aganglionic megacolon, Asthma, Decreased testicular si...	OMIM:209900
Filippi Syndrome	Finger syndactyly, Optic atrophy, Enlarged epiphyses, Clinodactyly of the 5th toe, Short philtrum...	ORPHA:3255
Coffin-Lowry Syndrome	Tapered finger, Coxa valga, Everted lower lip vermilion, Hearing impairment, Narrow palate, Hyper...	OMIM:303600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short phalanx of finger, Camptodactyly of finger, Shoulder dislocation, Flexion contracture, Devi...	OMIM:143095
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Non-midline cleft lip, Lip pit, Finger syndactyly, Toe syndactyly, Thin upper...	ORPHA:1300
Coenzyme Q10 Deficiency, Primary, 8	Hearing impairment, Respiratory distress	OMIM:616733
Ulbright-Hodes Syndrome	Pneumothorax, Humeroradial synostosis, Micrognathia, Phocomelia, Abnormal forearm bone morphology...	ORPHA:3404
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Abnormality of limb bone morphology	ORPHA:1573
Timothy Syndrome	Syndactyly, Thin upper lip vermilion, Cutaneous syndactyly, Microdontia	OMIM:601005
Arthrogryposis, Distal, Type 5D	Hyperlordosis, Limited elbow movement, Elbow flexion contracture, Camptodactyly, Limited knee fle...	OMIM:615065
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Supernumerary nipple, ...	ORPHA:457279
Barber-Say Syndrome	Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Hearing impairment, Talipes equinov...	OMIM:209885
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Leukopenia, Abnormality of the upper limb, Encephalocele, Absent...	ORPHA:974
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Hallux valgus, Coxa ...	OMIM:271640
Hennekam Syndrome	Camptodactyly of finger, Respiratory insufficiency, Conductive hearing impairment, Delayed erupti...	ORPHA:2136
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Microlissencephaly-Micromelia Syndrome	Long philtrum, Respiratory distress, Adducted thumb, Hypoparathyroidism, Bilateral single transve...	ORPHA:50810
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Cervical lymphad...	ORPHA:3260
Oculocerebrocutaneous Syndrome	Finger syndactyly, Wide mouth, Hand polydactyly, External ear malformation, Congenital hip disloc...	ORPHA:1647
Poems Syndrome	Pulmonary arterial hypertension, Increased circulating prolactin concentration, Metaphyseal scler...	ORPHA:2905
Greenberg Dysplasia	Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Epiphyse...	OMIM:215140
Acrodysostosis 2 With Or Without Hormone Resistance	Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta...	OMIM:614613
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Thickened skin, Short foot, Recurrent fractures, Slender long bon...	OMIM:601812
Nance-Horan Syndrome	Short phalanx of finger, Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, ...	OMIM:302350
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Spinal rigidity, Follicular hyperkeratosis, Scoliosis	OMIM:617066
Nipah Virus Disease	Cough, Respiratory distress, Vertigo	ORPHA:99825
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Oral ulcer, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decre...	ORPHA:169154
Trichothiodystrophy 7, Nonphotosensitive	Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:618546
Palmoplantar Keratoderma, Punctate Type Ia	Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis	OMIM:148600
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Hearing abnormality, Symphalangism affecting the phalanges of the hand, ...	ORPHA:2990
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short phalanx of finger, T lymphocytopenia, Micrognathia, Elbow flexion contracture, Aplasia/hypo...	ORPHA:508533
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Tapered finger, Cleft soft palate, Delayed eruption of teeth, Micrognathia, Elbo...	OMIM:619503
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Ichthyosis, Joint contracture, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, ...	OMIM:614457
Congenital Diaphragmatic Hernia	Intestinal malrotation, Hypoxemia, Respiratory distress	ORPHA:2140
Thyroid Lymphoma	Respiratory distress, Lymphadenopathy, Upper airway obstruction, Dyspnea, Stridor, Goiter	ORPHA:97285
Duane-Radial Ray Syndrome	Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of...	OMIM:607323
Tolchin-Le Caignec Syndrome	Macrotia, Sensorineural hearing impairment, High palate, Micrognathia, Abnormal vestibular functi...	OMIM:618971
Lacrimoauriculodentodigital Syndrome	Absent thumb, Conductive hearing impairment, Toe syndactyly, Microdontia, Micrognathia, Bifid uvu...	ORPHA:2363
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	High palate, Absent nipple, Syndactyly, Congenital hip dislocation, Cubitus valgus, Low-set ears,...	OMIM:104350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Wide mouth, Optic atrophy, Toe syndactyly, Foot polydactyly, Hand polydactyly,...	ORPHA:60040
Isolated Cleft Lip	Non-midline cleft lip, Supernumerary maxillary incisor, Conductive hearing impairment, Bilateral ...	ORPHA:199302
Periventricular Nodular Heterotopia 1	Syndactyly, Short finger, Clinodactyly	OMIM:300049
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Abnormal antihelix morphology, Neoplasm of the tongue, Camptodactyly of finger, Retrognathia, Mic...	ORPHA:3047
Hsd10 Disease, Infantile Type	Cyanosis, Hearing impairment, Optic atrophy	ORPHA:391428
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Short long bone, Splenic cyst, Respiratory distress, Short femur, Femoral bowing, F...	OMIM:618188
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,...	ORPHA:85167
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, Short palm, Abnormal form of the vertebral bodies, Brachydactyly	ORPHA:3238
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Aromatase Deficiency	Primary amenorrhea, Genu valgum, Delayed epiphyseal ossification, Female infertility, Male infert...	ORPHA:91
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, High palate, Respiratory distress	OMIM:619272
Bloom Syndrome	Facial erythema, Cutaneous photosensitivity, Bronchiectasis, Agenesis of maxillary lateral inciso...	OMIM:210900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Triceps weakness, Dyspnea, Respiratory distress, Cough	ORPHA:86812
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe, Protruding ear	OMIM:181510
Cardiofaciocutaneous Syndrome	Genu valgum, Macrotia, High palate, Long philtrum, Optic atrophy, Submucous cleft hard palate, Pa...	ORPHA:1340
Hereditary Bullous Dystrophy, Macular Type	Tapered finger, Decreased testicular size, Short finger, Acrocyanosis, Cryptorchidism, Pneumonia	ORPHA:1867
Oculodentodigital Dysplasia	Enamel hypoplasia, Cleft upper lip, Conductive hearing impairment, High palate, Short middle phal...	OMIM:164200
Tetanus	Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder dysfunction...	ORPHA:3299
Cerebrofacioarticular Syndrome	Irregular dentition, Conductive hearing impairment, Microtia, Micrognathia, Caudal appendage, Tal...	ORPHA:314679
Three M Syndrome 3	Hyperlordosis, Increased vertebral height, Hip dysplasia, Slender long bone, Clinodactyly of the ...	OMIM:614205
Boomerang Dysplasia	Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius	OMIM:112310
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Cyanosis, Testicular microlithiasis, Pneumothorax, Exertional dyspnea,...	ORPHA:60025
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Spinal rigidity, Joint laxity, Pes valgus, Scoliosis, Follicular hyp...	ORPHA:486815
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syn...	ORPHA:264200
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Dislocated radial ...	OMIM:600920
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Conductive hearing impairment, Coxa valga, Delayed eruption of teeth, Short lingual fre...	ORPHA:740
Immunodeficiency 17	T lymphocytopenia, Abnormal B cell morphology, Death in infancy, Decreased proportion of CD8-posi...	OMIM:615607
Laryngomalacia	Congenital laryngeal stridor, Respiratory distress	OMIM:150280
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis, Optic atrophy	OMIM:261680
Neu-Laxova Syndrome	Retrognathia, Abnormality of the philtrum, Macrotia, Spina bifida, Micrognathia, Bifid uvula, Sub...	ORPHA:2671
Viss Syndrome	Bifid tongue, Cleft soft palate, Pneumothorax, Micrognathia, Bifid uvula, Hip dislocation, Submuc...	OMIM:619472
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Conductive hearing impairment, Cleft soft palate, Bruising susceptibility, Mixed hearing impairme...	OMIM:614557
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Leukopenia, Anemia, Optic atrophy, Deep palmar crease, Macroglos...	ORPHA:505248
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Metaphyseal irregularity, Metaphyseal sclerosis, T lymphocytopenia, Short ...	OMIM:607944
Ichthyosis, Congenital, Autosomal Recessive 8	Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis	OMIM:613943
Codas Syndrome	Short phalanx of finger, Enamel hypoplasia, Genu valgum, Conductive hearing impairment, Sensorine...	OMIM:600373
Focal Dermal Hypoplasia	Camptodactyly of finger, Toe syndactyly, Upper limb asymmetry, Tooth agenesis, Hearing impairment...	ORPHA:2092
Episodic Ataxia Type 1	Hand clenching, Respiratory distress, Vertigo	ORPHA:37612
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly, Anteverted ears, Mandibular prognathia	OMIM:618087
Rothmund-Thomson Syndrome Type 1	Short phalanx of finger, Delayed eruption of teeth, Microdontia, Metaphyseal striations, Tooth ag...	ORPHA:221008
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered...	ORPHA:3472
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of...	ORPHA:988
Microphthalmia, Syndromic 2	2-3 toe syndactyly, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-3 toe cutaneous synda...	OMIM:300166
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Short phalanx of finger, Microdontia, Micrognathia, Bifid uvula, Hepatosplenomegaly, Smooth philt...	OMIM:266920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short phalanx of finger, Dentinogenesis imperfecta, Short toe, Retrognathia, Sensorineural hearin...	OMIM:619269
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Spina b...	OMIM:619227
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormal lip morphology, Abnormal mandible morphology...	ORPHA:93958
Hardikar Syndrome	Umbilical hernia, Cleft soft palate, Prolonged neonatal jaundice, Hypersplenism, Jaundice, Vertig...	OMIM:301068
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Gingivitis, Abnormal pigmentation of the oral mucosa, Finger syndactyly,...	ORPHA:2907
Ramos-Arroyo Syndrome	Long philtrum, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Respiratory d...	ORPHA:1051
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
Short Stature With Microcephaly And Distinctive Facies	Anemia, Death in infancy, Anisopoikilocytosis, Short digit, Microretrognathia, Syndactyly, Proxim...	OMIM:615789
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Short neck, Scoliosis, Reduced bone mineral density	OMIM:615279
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Micrognathia, Respiratory distress, Recurrent pneumonia, Thrombocytopenia, Neutropeni...	OMIM:616271
Oculopharyngodistal Myopathy 1	High palate, Sensorineural hearing impairment, Aspiration, Reduced forced vital capacity, Respira...	OMIM:164310
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Autosomal Recessive Faciodigitogenital Syndrome	High palate, Long philtrum, Wide mouth, Deep philtrum, Finger syndactyly, Micrognathia, Clinodact...	ORPHA:1974
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tapered finger, Hallux valgus, Overlapping toe, Abnormal periodontium morphology, Slender finger,...	ORPHA:480880
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Coxa valga, Micrognathia, Hip dislocation, Elbow dislocati...	ORPHA:3107
Vacterl/Vater Association	Non-midline cleft lip, Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Anal atresia, T...	ORPHA:887
Fanconi Anemia, Complementation Group F	Leukopenia, Anemia, Conductive hearing impairment, Absent thumb, Decreased response to growth hor...	OMIM:603467
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Cyanosis, Respiratory failure, Sensorineural hearing impairment, Death...	OMIM:252010
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis	ORPHA:444013
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Scoliosis	OMIM:619518
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Difficulty in tongue movements, Respiratory distress, Macroglossia, Re...	ORPHA:308552
Histiocytoid Cardiomyopathy	Cyanosis, Optic atrophy, Polycystic ovaries, Cough, Cleft palate, Tachypnea	ORPHA:137675
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Polydactyly, Retrognathia, Tapered finger, Cleft soft palate, Hallux valgus, Widel...	ORPHA:268261
Elsahy-Waters Syndrome	Abnormality of the anus, Delayed eruption of teeth, Bifid uvula, Anal stenosis, Posteriorly rotat...	OMIM:211380
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Volvulus, Aganglionic megacolon, A...	ORPHA:210122
Congenital Tracheal Stenosis	Cyanosis, Abnormal stomach morphology, Anal atresia, Duodenal stenosis, Respiratory distress, Tra...	ORPHA:141127
Bartsocas-Papas Syndrome 1	Short phalanx of finger, Absent thumb, Micrognathia, Cleft palate, Cupped ear, Talipes equinovaru...	OMIM:263650
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Purpura, Acrocyanosis, Lymphadenopathy, Intestinal obstruction, Er...	ORPHA:343
Meckel Syndrome, Type 1	Camptodactyly of finger, Asplenia, Micrognathia, Radial deviation of finger, Smooth philtrum, Pos...	OMIM:249000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Optic atrophy, Jaundic...	ORPHA:79282
Constricting Bands, Congenital	Cleft upper lip, Hand polydactyly, Syndactyly, Cleft palate, Talipes equinovarus	OMIM:217100
Ring Chromosome Y Syndrome	Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S...	ORPHA:261529
Werner Syndrome	Decreased fertility, Chondrocalcinosis, Small hand, Hypogonadism, Secondary amenorrhea, Increased...	ORPHA:902
X Small Rings	2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Toe syndactyly, Premature ovarian ins...	ORPHA:96201
Cranioectodermal Dysplasia 2	Polydactyly, Microdontia, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Postaxial h...	OMIM:613610
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea	OMIM:267450
Saethre-Chotzen Syndrome	Narrow palate, Prominent crus of helix, Hallux valgus, Microtia, Toe syndactyly, Partial duplicat...	OMIM:101400
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr...	ORPHA:70588
Immunodeficiency 40	Rectal fistula, T lymphocytopenia, Interstitial pneumonitis, Eosinophilic granuloma, Recurrent ot...	OMIM:616433
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Myotonic Dystrophy 1	Facial diplegia, Testicular atrophy, Respiratory distress, Cholelithiasis	OMIM:160900
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cyanosis, Brain abscess, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FEV1...	OMIM:187300
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Increased circulating prolactin concentration, Hypoventilation, Sensorineural hearing i...	ORPHA:293987
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Acute Lung Injury	Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea	ORPHA:178320
Incontinentia Pigmenti	Camptodactyly of finger, Hearing abnormality, Pulmonary arterial hypertension, Abnormal hand morp...	ORPHA:464
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Malabsorption, Asthma, Purpura, Acrocyanosis, Cutis marmorata, Sinusit...	ORPHA:183
Lymphatic Malformation 12	Hyperkeratosis, Neonatal death, Death in adolescence	OMIM:620014
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Pos...	ORPHA:97360
Vici Syndrome	Leukopenia, Cleft upper lip, Sensorineural hearing impairment, Everted upper lip vermilion, High ...	OMIM:242840
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Conductive hearing impairment, Toe syndactyly, Micrognathia, Broad hal...	OMIM:304120
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Rhinitis, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Absen...	OMIM:305100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Respiratory distress, Lymphocytic intersti...	OMIM:245590
Ramon Syndrome	Osteolysis, Hyperkeratosis	ORPHA:3019
Dowling-Degos Disease	Palmar pits, Hyperkeratotic papule, Arthritis, Abnormality of the hand, Hyperkeratosis	ORPHA:79145
Fontaine Progeroid Syndrome	Respiratory insufficiency, Conductive hearing impairment, Pneumothorax, Recurrent aspiration pneu...	OMIM:612289
Chiari Malformation Type Ii	Cyanosis, Myelomeningocele, Spina bifida, Cervical myelopathy, Inspiratory stridor	OMIM:207950
Kbg Syndrome	Macrotia, Long philtrum, Oligodontia, Protruding ear, Clinodactyly of the 5th finger, Syndactyly,...	OMIM:148050
Frank-Ter Haar Syndrome	Short phalanx of finger, Micrognathia, Camptodactyly, Metatarsus adductus, Bilateral talipes equi...	OMIM:249420
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Epiphyseal stippling, Scoliosis, Talipes equinovarus, ...	OMIM:118650
Larsen Syndrome	Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Talip...	OMIM:150250
Fanconi Anemia	Abnormal testis morphology, Toe syndactyly, Micrognathia, Hip dislocation, Cleft palate, Thromboc...	ORPHA:84
Leigh Syndrome With Cardiomyopathy	Anemia, Optic atrophy, Respiratory distress, Apnea, Central hypoventilation, Respiratory failure,...	ORPHA:70474
Tricuspid Atresia	Cyanosis	ORPHA:1209
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia, Clubbing	ORPHA:439
Ivic Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno...	ORPHA:2307
Costello Syndrome	Thickened Achilles tendon, Ulnar deviation of finger, Short neck, Delayed skeletal maturation, Jo...	ORPHA:3071
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility, Clubbing	ORPHA:244
Neu-Laxova Syndrome 1	Toe syndactyly, Micrognathia, Camptodactyly, Radial deviation of finger, Cleft palate, Rocker bot...	OMIM:256520
Tukel Syndrome	Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis	OMIM:609428
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Elbow flexion contracture, Hip dislocation, Elbow dislocation, Short femur, ...	OMIM:210710
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis, Hypogonadism	ORPHA:281090
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis	OMIM:104100
Poland Syndrome	Spina bifida occulta, Short neck, Absent hand, Reduced bone mineral density, Finger symphalangism...	ORPHA:2911
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Persistent cloaca, Abnormal metacarpal morphology, Aplasia/Hyp...	ORPHA:1112
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Recurrent otitis media, Impaired lymphocyte transformation with p...	OMIM:600802
Meier-Gorlin Syndrome 7	2-3 toe syndactyly, Preaxial hand polydactyly, Sensorineural hearing impairment, High palate, Mic...	OMIM:617063
Hartsfield Syndrome	Cleft upper lip, Hypoplasia of the frontal bone, Gonadotropin deficiency, Median cleft lip, Synda...	OMIM:615465
Chromosome 2Q37 Deletion Syndrome	Short phalanx of finger, Short toe, Sensorineural hearing impairment, Short metacarpal, Short met...	OMIM:600430
Brain-Lung-Thyroid Syndrome	Pulmonary arterial hypertension, Respiratory failure, Sensorineural hearing impairment, Elevated ...	ORPHA:209905
Sialidosis Type 1	Kyphosis, Delayed skeletal maturation, Scoliosis, Hyperkeratosis, Abnormal form of the vertebral ...	ORPHA:812
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopenia, Decreased pro...	OMIM:619510
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Neuromuscular Oculoauditory Syndrome	Wrist flexion contracture, Sensorineural hearing impairment, Aspiration, Decreased amplitude of s...	OMIM:618733
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac...	ORPHA:959
Congenital Enterovirus Infection	Leukopenia, Anemia, Abnormal macrophage morphology, Respiratory distress, Pleural effusion, Leuko...	ORPHA:292
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Thick lower lip vermilion, Premature skin wrinkling, Thin upper lip ve...	ORPHA:1942
Methylcobalamin Deficiency Type Cble	Clinodactyly, Pancytopenia, Syndactyly, Macrocytic anemia, Increased mean corpuscular volume, Neu...	ORPHA:2169
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Urticaria, Malabsorption, Neutropenia in presence of anti-neutropil antibodies, Interstitial pneu...	ORPHA:37042
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Toe syndactyly, Supernumerary nipple, Postaxial hand polydactyly, Cleft ...	ORPHA:373
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Hypersplenism, Syndactyly, Brachydactyly, Esophageal varix, Sple...	OMIM:616028
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea	ORPHA:922
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Sensorineural hearing impairment, High palate, Optic atrophy, Broad alveolar ridges, Hip dysplasi...	OMIM:616975
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Klippel-Trenaunay-Weber Syndrome	Hand oligodactyly, Syndactyly, Hand polydactyly, Macrodactyly	OMIM:149000
Aicardi-Goutieres Syndrome 1	Prolonged neonatal jaundice, Petechiae, Multiple gastric polyps, Purpura, Acrocyanosis, Erythema,...	OMIM:225750
Focal Dermal Hypoplasia	Short phalanx of finger, Short 4th metacarpal, Optic atrophy, Delayed eruption of teeth, Toe synd...	OMIM:305600
Marden-Walker Syndrome	Camptodactyly of finger, Retrognathia, Micrognathia, Pyloric stenosis, Bifid uvula, Submucous cle...	ORPHA:2461
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl...	OMIM:113310
Juvenile Idiopathic Arthritis	Thickened skin, Joint dislocation, Arthritis, Abnormal sacroiliac joint morphology, Generalized h...	ORPHA:92
Farber Disease	Respiratory insufficiency, Short toe, Anemia, Abnormality of the elbow, Short finger, Abnormality...	ORPHA:333
Prolidase Deficiency	Genu valgum, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Hyperkerat...	ORPHA:742
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Abnormal pattern of respiration, Gastritis, Episodic respiratory distress...	ORPHA:31826
Scalp-Ear-Nipple Syndrome	Small earlobe, Underdeveloped antitragus, 2-3 toe syndactyly, Mandibular prognathia, Cutaneous ph...	OMIM:181270
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, ...	ORPHA:572
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Hyperkeratosis, Postaxial polydactyly, Death in infancy	OMIM:614576
Kyphomelic Dysplasia	Cleft upper lip, Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur...	OMIM:211350
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Neonatal death, Respiratory distress, Abnormal pinna morphology	OMIM:231680
Jacobsen Syndrome	Abnormality of the anus, Ectopic anus, Toe syndactyly, Hip dislocation, Bone marrow hypocellulari...	ORPHA:2308
8Q24.3 Microdeletion Syndrome	Short 5th finger, Cleft maxillary alveolar ridge, Optic nerve hypoplasia, Short femur, Spina bifi...	ORPHA:508488
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Heterotaxy, Visceral, 1, X-Linked	Cyanosis, Asplenia, Myelomeningocele, Bilateral talipes equinovarus, Short long bone, Polysplenia...	OMIM:306955
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Opsismodysplasia	Short phalanx of finger, Respiratory insufficiency, Metaphyseal cupping, Hypoplastic pubic bone, ...	OMIM:258480
Degcags Syndrome	Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Tracheomalacia, Hepatosplen...	OMIM:619488
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Short phalanx of finger, Acute myelomonocytic leukemia, Metaphyseal irregularity, Macrotia, Genu ...	ORPHA:99646
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum, Sensorineural hearing impairment	ORPHA:488627
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Classical-Like Ehlers-Danlos Syndrome Type 2	Shoulder dislocation, Hallux valgus, Hip dislocation, Elbow dislocation, Knee dislocation, Sacral...	ORPHA:536532
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc...	OMIM:250220
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia, Respiratory distress	OMIM:251000
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Synostosis of carpal bones, Short neck, Scoliosis, Bilateral single transverse palmar c...	ORPHA:3191
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Atrial Septal Defect, Ostium Primum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Clubbing of toes, Clubbing of fing...	ORPHA:99106
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Microtia, Micrognathia, Submucous cleft hard palate, Optic nerve hypoplasi...	OMIM:301043
Joubert Syndrome 17	3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly	OMIM:614615
Telangiectasia, Hereditary Hemorrhagic, Type 2	Pulmonary arterial hypertension, Palate telangiectasia, Anemia, Brain abscess, Cyanosis, Facial t...	OMIM:600376
Prader-Willi Syndrome	Cutaneous photosensitivity, Genu valgum, Hypoventilation, Decreased response to growth hormone st...	OMIM:176270
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Respiratory insufficie...	OMIM:208500
Myasthenia Gravis	Hemolytic anemia, Acrocyanosis, Hearing impairment, Dyspnea, Pure red cell aplasia	ORPHA:589
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Neutrophilia, Stomatitis, Respiratory distress, Splenomegaly, Abscess	OMIM:612852
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Noonan Syndrome 8	Hyperkeratosis, Short neck, Palmoplantar cutis laxa	OMIM:615355
Steinfeld Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Media...	OMIM:184705
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Smith-Lemli-Opitz Syndrome	2-3 toe syndactyly, Bifid tongue, Optic atrophy, Micrognathia, Hip dislocation, Tooth agenesis, P...	ORPHA:818
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Micrognathia...	OMIM:268300
Donohue Syndrome	Long foot, Delayed skeletal maturation, Acanthosis nigricans, Hyperkeratosis, Large hands	OMIM:246200
Infantile Krabbe Disease	Optic atrophy, Respiratory distress, Decreased nerve conduction velocity, Respiratory failure, Pr...	ORPHA:206436
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Respiratory distress, Tachypnea	ORPHA:79242
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Low-set ears, Cyanosis, Death in infancy	OMIM:617478
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Japanese Encephalitis	Distal upper limb muscle weakness, Respiratory paralysis, Decreased motor nerve conduction veloci...	ORPHA:79139
Microphthalmia, Syndromic 6	Polydactyly, Toe syndactyly, Micrognathia, Anterior hypopituitarism, Bifid uvula, Uplifted earlob...	OMIM:607932
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs, Brachydactyl...	OMIM:615503
Hereditary Sensory And Autonomic Neuropathy Type 1	Neuropathic arthropathy, Osteomyelitis, Limb pain, Hyperkeratosis, Pathologic fracture	ORPHA:36386
Arnold-Chiari Malformation Type Ii	Meningocele, Cyanosis, Myelomeningocele, Hand muscle atrophy, Apnea, Pneumonia, Inspiratory stridor	ORPHA:1136
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Mosaic Trisomy 16	Short femoral neck, Wide mouth, Short forearm, Craniofacial asymmetry, Clinodactyly, Anteriorly p...	ORPHA:1708
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Phocomelia, Schinzel Type	Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Anal atresia...	ORPHA:2879
Classic Mycosis Fungoides	Hyperkeratosis	ORPHA:2584
Zttk Syndrome	Absent gallbladder, High palate, Small hand, Optic atrophy, Bifid uvula, Submucous cleft hard pal...	OMIM:617140
Thymic Aplasia	T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Decreased proportion of naive...	ORPHA:83471
Townes-Brocks Syndrome 1	Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd...	OMIM:107480
Restrictive Dermopathy 1	Overtubulated long bones, Natal tooth, Prominent superficial blood vessels, Temporomandibular joi...	OMIM:275210
Bacterial Toxic-Shock Syndrome	Abnormality of the upper limb, Increased circulating metamyelocyte count, Respiratory distress, E...	ORPHA:36234
Severe Generalized Junctional Epidermolysis Bullosa	Mitten deformity, Enamel hypoplasia, Anemia, Esophageal stricture, Pneumothorax, Abnormal fingert...	ORPHA:79404
Lymphatic Malformation 4	Pedal edema, Hyperkeratosis	OMIM:615907
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, 2-3 toe syndactyly, Optic atrophy, Reduced subcutaneous adipose tissue, ...	ORPHA:3455
Coffin-Siris Syndrome 12	Hip subluxation, Micrognathia, Prominent antihelix, Celiac disease, Slender finger, Cutaneous syn...	OMIM:619325
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Bronchiectasis, Abnormally low T cell receptor excision circle level, Lymphope...	OMIM:242700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short phalanx of finger, Hip subluxation, Micrognathia, Flared iliac wing, Elbow flexion contract...	OMIM:271665
Buerger Disease	Acrocyanosis	ORPHA:36258
Craniosynostosis And Dental Anomalies	Short phalanx of finger, Dental malocclusion, Stapes ankylosis, Conductive hearing impairment, Na...	OMIM:614188
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Microtia, second degree, Thin vermilion border, Conical inc...	OMIM:261540
Coccidioidomycosis	Abnormal long bone morphology, Pleural empyema, Granuloma, Abnormal metacarpal morphology, Exudat...	ORPHA:228123
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Cryptococcosis	Lymphoid leukemia, Respiratory distress, Abnormality of the outer ear, Pleural effusion, Dyspnea,...	ORPHA:1546
Lujo Hemorrhagic Fever	Leukopenia, Rhinitis, Purpura, Respiratory distress, Lymphopenia, Ecchymosis, Crackles, Leukocyto...	ORPHA:319213
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundice, Respiratory distress, R...	OMIM:274150
Fucosidosis	Vascular skin abnormality, Acrocyanosis, Hearing impairment, Abnormality of the dentition	ORPHA:349
Curry-Jones Syndrome	Preaxial hand polydactyly, Lip pit, 2-3 finger syndactyly, Preaxial foot polydactyly, Intestinal ...	OMIM:601707
Toxic Epidermal Necrolysis	Intestinal perforation, Anemia, Malabsorption, Respiratory distress, Tracheoesophageal fistula, R...	ORPHA:537
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Micrognathia, Hypopl...	OMIM:216340
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Shortening of all metacarp...	OMIM:601356
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Wide mouth, Widely spaced teeth, Pineal cyst, Short philtrum, Submucous cleft soft...	OMIM:300967
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo...	ORPHA:1329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Episodic tachypnea, Jaundice, Respiratory distress, Anteriorly placed anus, Pneumonia, Tachypnea	ORPHA:26793
Listeriosis	Brain abscess, Hepatic granulomatosis, Abnormal cellular immune system morphology, Liver abscess,...	ORPHA:533
Specc1L-Related Hypertelorism Syndrome	Short toe, Long philtrum, Finger syndactyly, Advanced eruption of teeth, Abnormal helix morpholog...	ORPHA:1519
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Gingivitis, Anemia, Esophageal stricture, Short 4th metacarpal, Abnormal...	ORPHA:2908
Primary Dystonia, Dyt4 Type	Open mouth, Movement abnormality of the tongue, Respiratory distress	ORPHA:98805
Neuroocular Syndrome	Tapered finger, Torus palatinus, Scapular winging, Deep palmar crease, Cupped ear, Hyperextensibi...	OMIM:619539
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia, Tachypnea	ORPHA:860
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Bardet-Biedl Syndrome	Finger syndactyly, Hypogonadism, Hypoplasia of the ovary, Short neck, Postaxial hand polydactyly	ORPHA:110
Turner Syndrome Due To Structural X Chromosome Anomalies	Neck pterygia, Short 4th metacarpal, Short neck, Abnormal forearm bone morphology, Enlargement of...	ORPHA:99413
Mosaic Monosomy X	Neck pterygia, Short 4th metacarpal, Short neck, Abnormal forearm bone morphology, Enlargement of...	ORPHA:99228
Monosomy X	Neck pterygia, Short 4th metacarpal, Short neck, Abnormal forearm bone morphology, Enlargement of...	ORPHA:99226
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Turner Syndrome	Neck pterygia, Short 4th metacarpal, Short neck, Abnormal forearm bone morphology, Enlargement of...	ORPHA:881
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Sensorineural hearing impairment, Respiratory distress, Short femur, Apnea, Short hu...	ORPHA:17
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter...	ORPHA:231154
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Wide mouth, Asthma, Nasal flarin...	ORPHA:466943
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:616295
Biotinidase Deficiency	Sensorineural hearing impairment, Optic atrophy, Respiratory distress, Apnea, Hyperventilation, M...	ORPHA:79241
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Supernumerary nipple, Respiratory distress, Cryptorchidism, Post...	ORPHA:2519
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Macroglossia, Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, Villous atrophy, B lymphocytopenia,...	OMIM:606367
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, T lymphocytopenia, Recurrent aspiration pneumonia, Ja...	ORPHA:79124
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,...	OMIM:618426
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory insufficiency, Difficulty in tongue movements, Exertional dyspnea, Macroglossia, Resp...	ORPHA:365
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf...	ORPHA:35078
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Microphthalmia With Linear Skin Defects Syndrome	Cleft earlobe, Retrognathia, Mandibular aplasia, Abnormality of the anus, Abnormal testis morphol...	ORPHA:2556
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Absent thumb, Optic atrophy, Slender long bone, Bifid uvula, Short philtrum, ...	ORPHA:500150
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Respiratory distress, ...	ORPHA:2330
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Broad hallux, Upl...	ORPHA:261537
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	ORPHA:409
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Sudden episodic apnea	ORPHA:159
Acquired Purpura Fulminans	Macular purpura, Thrombocytopenia, Acrocyanosis	ORPHA:49566
Kyphoscoliotic Ehlers-Danlos Syndrome	Shoulder dislocation, Abnormal foot morphology, Talipes equinovarus, Hip dislocation, Pes planus,...	ORPHA:536545
Lacrimoauriculodentodigital Syndrome 1	2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox...	OMIM:149730
Hidrotic Ectodermal Dysplasia, Halal Type	Irregular menstruation, Follicular hyperkeratosis	ORPHA:1809
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Charge Syndrome	Respiratory insufficiency, Optic atrophy, Delayed eruption of teeth, Anterior hypopituitarism, Ab...	ORPHA:138
Proteus Syndrome	Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Upper limb asymmetry...	ORPHA:744
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Clubbing	OMIM:301220
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Flexion contracture, Death in infancy	OMIM:609180
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Camptodactyly, Kyphoscoliosis, Hyperkeratosis, Arthrogryposis mult...	OMIM:601701
Q Fever	Anemia, Granuloma, Purpura, Respiratory distress, Hepatosplenomegaly, Pleural effusion, Lymphaden...	ORPHA:781
Popliteal Pterygium Syndrome	Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cutaneous finger syndactyly, Bifid uvula, Cle...	OMIM:119500
Alternating Hemiplegia Of Childhood	Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress, Flushing, Apnea, ...	ORPHA:2131
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Ichthyosis	OMIM:612379
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Conductive hearing impairment, Short 5th finger, Abnormality of the anus...	OMIM:607872
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cryptorchidism,...	ORPHA:2250
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, High palate, Wide mouth, Short lingual fre...	ORPHA:1521
Mowat-Wilson Syndrome	Asplenia, Conductive hearing impairment, Tapered finger, Hallux valgus, Delayed eruption of teeth...	ORPHA:2152
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Acantholysis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis	OMIM:615508
Eisenmenger Syndrome	Pulmonary arterial hypertension, Cyanosis, Brain abscess, Exertional dyspnea, Hypoxemia, Respirat...	ORPHA:97214
Methylmalonic Aciduria, Cblb Type	Anemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Chondrodysplasia-Disorder Of Sex Development Syndrome	Short phalanx of finger, Macrotia, Short metacarpal, Abnormal pelvic girdle bone morphology, Broa...	ORPHA:1422
Chime Syndrome	Ichthyosis, Short foot, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the toes, Clubb...	ORPHA:3474
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Joint stiffness, Hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Neurocardiofaciodigital Syndrome	Retrognathia, Polydactyly, High palate, Syndactyly, Thin vermilion border, Optic disc pallor, Hea...	OMIM:619869
Fructose-1,6-Bisphosphatase Deficiency	Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre...	ORPHA:348
Methylmalonic Aciduria, Cbla Type	Anemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized ichthyosis, Hypogonadism, Generalized hyperkeratosis	ORPHA:2269
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Protrusio acetabuli, Arachnodactyly, Joint dislocation, Palmoplantar cutis laxa, Progressive cong...	OMIM:225400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Conductive hearing impairment, Micrognathia, Broad hallux, Pneumonia, Widened distal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Conductive hearing impairment, Micrognathia, Broad hallux, Pneumonia, Widened distal...	ORPHA:353277
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Supernumerary nipple,...	OMIM:312870
Fraser Syndrome	Conductive hearing impairment, Bifid tongue, Ectopic anus, Toe syndactyly, Orofacial cleft, Atres...	ORPHA:2052
Congenital Disorder Of Deglycosylation 1	Small hand, Central sleep apnea, Respiratory distress, Decreased sensory nerve conduction velocit...	OMIM:615273
Lichen Planopilaris	Hyperkeratosis, Pterygium	ORPHA:525
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Malabsorption, Microdontia, Hip dislocation, Abnormality of the wrist, Acrocyanosis, ...	ORPHA:285
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Ichthyosis, Elbow flexion contracture, Pes cavus, Hyperkeratosis	OMIM:148210
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Palmar hyperlinearity, Subungual hyperkeratosis, Orthokeratosis	OMIM:617337
Cutis Marmorata Telangiectatica Congenita	Abnormality of the upper limb, Finger syndactyly, Subcutaneous hemorrhage, Toe syndactyly, Short ...	ORPHA:1556
Bone Marrow Failure Syndrome 3	Joint hypermobility, Congenital hip dislocation, Hyperkeratosis, Metaphyseal dysplasia, Reduced b...	OMIM:617052
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Hallux valgus, Optic atrophy, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Br...	ORPHA:261552
Koolen-De Vries Syndrome Due To A Point Mutation	Ichthyosis, Positional foot deformity, Pes cavus, Sacral dimple, Spina bifida, Calcaneovalgus def...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ichthyosis, Positional foot deformity, Pes cavus, Sacral dimple, Spina bifida, Calcaneovalgus def...	ORPHA:363958
Atrial Septal Defect, Ostium Secundum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased...	ORPHA:99103
Silver-Russell Syndrome	Delayed cranial suture closure, Abnormality of the calcaneus, Clinodactyly of the 5th finger, Upp...	ORPHA:813
Dihydropyrimidinase Deficiency	Short phalanx of finger, Anal atresia, Talipes equinovarus	OMIM:222748
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Hypogeusia, Acrocyanosis, Decreased sensitivity to hypoxemia	OMIM:223900
Primary Hyperoxaluria	Optic atrophy, Acrocyanosis, Cutis marmorata, Abnormal dental pulp morphology, Rootless teeth, Op...	ORPHA:416
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Cyanosis, Polysplenia	OMIM:616749
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 82 With Systemic Inflammation	Oral ulcer, Anemia, Reduced natural killer cell count, Duodenal ulcer, Villous atrophy, T lymphoc...	OMIM:619381
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Coxa valga, Micrognathia, Scapular winging, Hearing impairment, Avascular necros...	OMIM:150230
Pseudoaminopterin Syndrome	Hip subluxation, Sagittal craniosynostosis, Talipes valgus, Short 4th metacarpal, Limited elbow m...	ORPHA:221120
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Irregular menstruation	OMIM:110100
Inhalational Anthrax	Abnormal sweat gland morphology, Dyspnea, Respiratory distress	ORPHA:247257
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac...	ORPHA:555874
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Preaxial hand polydactyly, Exencephaly, Long philtrum, Finger syndactyly, Encephalocele, Broad th...	ORPHA:2211
Nasolacrimal Duct Cyst	Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory...	ORPHA:141083
Plague	Lymphadenitis, Splenomegaly, Enterocolitis, Abnormality of the elbow, Glossitis, Respiratory dist...	ORPHA:707
Fraser Syndrome 3	Short toe, Micrognathia, Stillbirth, Simple ear, Low-set ears, Cutaneous syndactyly	OMIM:617667
Classical Ehlers-Danlos Syndrome	Umbilical hernia, Shoulder dislocation, Pulp calcification, Talipes equinovarus, Hip dislocation,...	ORPHA:287
Hypotrichosis 6	Follicular hyperkeratosis	OMIM:607903
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Trichothiodystrophy 1, Photosensitive	Flexion contracture, Hypogonadism, Death in infancy, Congenital nonbullous ichthyosiform erythrod...	OMIM:601675
Lipoid Proteinosis	Hyperkeratosis, Thickened skin	ORPHA:530
Microphthalmia, Syndromic 1	Camptodactyly, Radial deviation of finger, Optic disc coloboma, Hearing impairment, Orofacial cle...	OMIM:309800
Lamellar Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:313
Naxos Disease	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Palm...	OMIM:601214
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress	ORPHA:330021
Lichen Planus Pemphigoides	Hyperkeratosis	ORPHA:254478
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Unilateral Polymicrogyria	Cyanosis, Infantile sensorineural hearing impairment, Epistaxis, Apnea, Giant somatosensory evoke...	ORPHA:268943
Milroy Disease	Pedal edema, Hyperkeratosis, Ankle swelling	ORPHA:79452
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent pneumonia, T lymphocytopenia, Eosinophilia	OMIM:610163
Hemorrhagic Fever-Renal Syndrome	Anemia, Petechiae, Respiratory distress, Ecchymosis, Pleural effusion, Epistaxis, Dyspnea, Cough,...	ORPHA:340
Pilodental Dysplasia With Refractive Errors	Follicular hyperkeratosis	OMIM:262020
X-Linked Lymphoproliferative Disease	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	ORPHA:2442
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, 2-3 toe syndactyly, Finger syndactyly, Micrognathia, Clinodactyl...	OMIM:620025
Autoinflammation With Arthritis And Dyskeratosis	Polyarticular arthritis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis...	ORPHA:99104
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Neonatal death, Death in infancy, Ichthyosis follicularis, Butterfly vertebrae, Hip dislocation, ...	OMIM:308205
Baller-Gerold Syndrome	Absent thumb, Aplasia of metacarpal bones, Aphalangy of the hands, Spina bifida occulta, Lambdoid...	OMIM:218600
Adult Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of dental morphology, Split foot, Abnormality of t...	ORPHA:978
Noonan Syndrome 10	Palmoplantar cutis laxa, Short neck, Scoliosis, Cubitus valgus, Hyperkeratosis	OMIM:616564
Fraser Syndrome 2	Narrow mouth, Cutaneous syndactyly	OMIM:617666
Grange Syndrome	Increased susceptibility to fractures, Recurrent fractures, Syndactyly, Brachydactyly, Finger cli...	OMIM:602531
Nivelon-Nivelon-Mabille Syndrome	Short phalanx of finger, Optic disc coloboma, Short metacarpal, Brachydactyly	OMIM:600092
Congenital Disorder Of Glycosylation, Type Im	Hyperkeratosis, Ichthyosis, Death in infancy	OMIM:610768
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Wheezing, Recurrent sinusitis, Recu...	OMIM:300755
Loeys-Dietz Syndrome 2	Retrognathia, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Joint contracture ...	OMIM:610168
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis	ORPHA:2841
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, C...	OMIM:610655
Arteriosclerosis, Severe Juvenile	Short phalanx of finger, Hip dysplasia, Anemia, Gastric ulcer	OMIM:208060
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Calf muscle hypertrophy, Increased bone mineral ...	ORPHA:79474
Isolated Arrhinia	Hypoplasia of the nasal bone, Respiratory distress, Microtia	ORPHA:1134
Lymphatic Malformation 7	Pleural effusion, Anemia, Respiratory distress, Chylothorax	OMIM:617300
Nocardiosis	Lymphadenitis, Brain abscess, Pneumothorax, Productive cough, Liver abscess, Cutaneous abscess, R...	ORPHA:31204
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
6Q Terminal Deletion Syndrome	Talipes calcaneovalgus, Hallux valgus, Clinodactyly, Joint laxity, Short neck, Scoliosis, Promine...	ORPHA:75857
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Restrictive Dermopathy	Camptodactyly of finger, Natal tooth, Temporomandibular joint ankylosis, Microcolon, Short umbili...	ORPHA:1662
Kid Syndrome	Knee flexion contracture, Coxa valga, Patellar hypoplasia, Knee pain, Arthritis, Follicular hyper...	ORPHA:477
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Anal atresia, Mesoaxial hand polydactyly, Syndactyly, Congenital hip dislo...	OMIM:236700
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Genu varum, Finger syndactyly	ORPHA:1969
Genitourinary And/Or Brain Malformation Syndrome	Long philtrum, Jejunal atresia, Micrognathia, Abnormality of the outer ear, Syndactyly, Ileal atr...	OMIM:618820
Cocaine Intoxication	Intestinal perforation, Pneumothorax, Respiratory distress, Hyperventilation, Cough, Colitis, Whe...	ORPHA:90068
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Respiratory distress, Fragile skin, Narrow mouth, Erythema, Neonatal respiratory distre...	OMIM:614748
Angioosteohypertrophic Syndrome	Finger syndactyly, Hemihypertrophy of lower limb, Hand polydactyly, Abnormality of the menstrual ...	ORPHA:2346
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Cyanosis, Stapes ankylosis, Conductive hearing impairment, Senso...	ORPHA:51608
Noonan Syndrome 2	Palmoplantar cutis laxa, Short neck, Cubitus valgus, Hyperkeratosis, Arthrogryposis multiplex con...	OMIM:605275
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Intestinal perforation, Anemia, Rhinitis, Abnormality of the anus, Oral synechia, Respiratory dis...	ORPHA:95455
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Recurrent pneumonia, Ortho...	ORPHA:980
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Enterocolitis, T lymphocytopenia, Villous atrophy, B lymphocytop...	ORPHA:391487
Odontoonychodermal Dysplasia	Hypergranulosis, Orthokeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Plantar...	OMIM:257980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Sclerodactyly, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis	OMIM:610644
Pachyonychia Congenita 3	Palmoplantar keratoderma, Palmar hyperkeratosis, Follicular hyperkeratosis, Plantar hyperkeratosis	OMIM:615726
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyp...	ORPHA:79501
Dermatomyositis	Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Abnormal ...	ORPHA:221
Vater/Vacterl Association	Triphalangeal thumb, Spina bifida, Short thumb, Hypoplasia of the radius, Patent urachus, Abnorma...	OMIM:192350
Porokeratosis	Hyperkeratosis	ORPHA:79358
Colchicine Poisoning	Cardiorespiratory arrest, Respiratory distress, Leukocytosis	ORPHA:31824
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ichthyosis, Joint laxity, Short neck, Hyperkeratosis, Cubitus valgus, Deep palmar crease	OMIM:607721
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Prolonged neonatal jaundice, Jaundice, Respiratory distress, Acral ulceration, Autoamputation of ...	OMIM:256810
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Acute lymphoblastic leukemia, Lympho...	OMIM:208900
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Arrhinencephaly, Acrocyanosis, Cutis marmorata, Hepatosplenomegaly, N...	ORPHA:51
Rare Cutaneous Lupus Erythematosus	Abnormal palm morphology, Abnormality of the knee, Abnormality of the upper arm, Abnormality of t...	ORPHA:535
Pallister-Killian Syndrome	Short phalanx of finger, Delayed eruption of teeth, Micrognathia, Bifid uvula, Hip dislocation, S...	OMIM:601803
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Goodpasture Syndrome	Cyanosis, Anemia, Exertional dyspnea, Crackles, Restrictive ventilatory defect, Cough, Increased ...	OMIM:233450
Acrodysostosis With Multiple Hormone Resistance	Short phalanx of finger, Short toe, Mandibular prognathia, Decreased response to growth hormone s...	ORPHA:280651
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hyperlordosis, Clinodactyly of the 2nd finger, Thickened skin, Epidermal thickening, Joint laxity...	ORPHA:73223
Pmm2-Cdg	Retrognathia, Increased circulating prolactin concentration, Macrotia, High palate, Long philtrum...	ORPHA:79318
Chronic Mucocutaneous Candidiasis	Dyspareunia, Hyperkeratosis	ORPHA:1334
Mitochondrial Dna-Associated Leigh Syndrome	Sensorineural hearing impairment, Optic atrophy, Apnea, Dyspnea, Hyperventilation, Episodic respi...	ORPHA:255210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Toe syndactyly, Split foot, Split hand, Hypogonadotropic hypogonadism, Ectrod...	OMIM:604292
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Ichthyosis, Kyphosis, Abnormal vertebral morphology, Oligodactyly, Abnor...	ORPHA:2273
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Aganglionic megacolon, Pyloric...	OMIM:235730
Autosomal Dominant Cerebellar Ataxia	Pes cavus, Hyperkeratosis, Azoospermia	ORPHA:99
Genitopatellar Syndrome	Short phalanx of finger, Hip contracture, Patellar aplasia, Malrotation of small bowel, Delayed e...	OMIM:606170
Leptospirosis	Jaundice, Respiratory distress, Pleural effusion, Lymphadenopathy, Cough, Thrombocytopenia, Papil...	ORPHA:509
Truncus Arteriosus	Cyanosis, Aplasia/hypoplasia involving bones of the extremities, Hypoplasia of the thymus, Tachypnea	ORPHA:3384
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Ellis Van Creveld Syndrome	Genu valgum, Capitate-hamate fusion, Foot polydactyly, Synostosis of carpal bones, Hand polydacty...	ORPHA:289
Holoprosencephaly 2	Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ...	OMIM:157170
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy	ORPHA:1764
Cardiomyopathy, Familial Hypertrophic, 4	Dyspnea, Respiratory distress	OMIM:115197
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis	ORPHA:1806
Gitelman Syndrome	Parathyroid adenoma, Neoplasm of the pancreas, Respiratory distress, Vertigo, Tinnitus, Iron defi...	ORPHA:358
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad first metatarsal, Polydactyly, Splenomegaly, Pulmonary arterial hypertension, Postaxial pol...	OMIM:619534
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, H...	ORPHA:572333
Aortic Arch Interruption	Cyanosis, Exertional dyspnea, Tachypnea, Respiratory distress	ORPHA:2299
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Respiratory distress, Death in infancy	OMIM:617156
Postinfectious Vasculitis	Abnormality of the peripheral nervous system, Palpable purpura, Acrocyanosis, Vasculitis in the s...	ORPHA:48435
Familial Keratoacanthoma	Hyperkeratosis	ORPHA:493
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Hand polydactyly, Split foot, Split hand, Hypogonadotropic hypogonadism, Hyperker...	OMIM:129900
Hyperoxaluria, Primary, Type I	Optic neuropathy, Acrocyanosis, Cutis marmorata, Optic atrophy	OMIM:259900
Tuberous Sclerosis Complex	Parathyroid adenoma, Parathyroid hyperplasia, Pituitary adenoma, Respiratory distress, Pheochromo...	ORPHA:805
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Menometrorrhagia	ORPHA:79430
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Cyanosis	OMIM:600309
Reactive Arthritis	Osteomyelitis, Enthesitis, Arthritis, Joint stiffness, Joint swelling, Hyperkeratosis	ORPHA:29207
Incontinentia Pigmenti	Hemivertebrae, Hyperkeratosis, Kyphoscoliosis	OMIM:308300
Warburg-Cinotti Syndrome	Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Elbow flexion contrac...	OMIM:618175
Ramon Syndrome	Hyperkeratosis, Scoliosis, Kyphosis, Juvenile rheumatoid arthritis	OMIM:266270
Cowden Syndrome	Kyphosis, Scoliosis, Generalized hyperkeratosis, Brachydactyly, Palmoplantar keratoderma	ORPHA:201
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Alström Syndrome	Gingivitis, Recurrent sinusitis, Hepatosplenomegaly, Dorsocervical fat pad, Tooth agenesis, Sever...	ORPHA:64
Leprechaunism	Thickened skin, Long foot, Acanthosis nigricans, Hyperkeratosis, Large hands	ORPHA:508
Xeroderma Pigmentosum	Thickened skin, Hypogonadism, Pterygium, Delayed skeletal maturation, Hyperkeratosis	ORPHA:910
Lymphatic Filariasis	Hyperkeratosis, Orchitis, Ankle swelling, Knee osteoarthritis	ORPHA:2035
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Respiratory distress, Intestinal ma...	ORPHA:2255
Meige Disease	Pedal edema, Cobblestone-like hyperkeratosis	ORPHA:90186
Fabry Disease	Abnormality of femur morphology, Arthritis, Hyperkeratosis, Reduced bone mineral density	ORPHA:324
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis	ORPHA:238468
Scimitar Syndrome	Pulmonary arterial hypertension, Pneumothorax, Respiratory distress, Cough	ORPHA:185
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Epidermal hyperkeratosis	OMIM:137940
Leprosy	Hyperkeratosis, Acral ulceration, Autoamputation of digits	ORPHA:548
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis	OMIM:158310
Congenital Total Pulmonary Venous Return Anomaly	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Apneic episodes in infancy, Respir...	ORPHA:99125
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Follicular hyperkeratosis	ORPHA:158668
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Distal upper limb muscle weakness, Spinal rigidity, Elbow flexion contr...	OMIM:619566

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 Jag2

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 Jag2.

No publications found that use IMPC mice or data for Jag2.

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MGI Allele	Allele Type	Produced
Jag2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Jag2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Jag2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Jag2 MGI:1098270

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

X-ray

Embryo LacZ

MicroCT E14.5-E15.5

MicroCT E18.5

Auditory Brain Stem Response

Human diseases caused by Jag2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data