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Gene: Grem1 MGI:1344337

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

gremlin 1, DAN family BMP antagonist

Synonyms:

Grem, Drm, Cktsf1b1, gremlin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Grem1 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 Grem1 (1 diseases)
Human diseases predicted to be associated with Grem1 (1302 diseases)

The table below shows human diseases associated to Grem1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Mixed Polyposis Syndrome			ORPHA:157794

The table below shows human diseases predicted to be associated to Grem1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Ureter, Cancer Of	Neoplasm of the ureter	OMIM:191600
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis, Hand polydactyly	OMIM:236110
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o...	ORPHA:3266
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Renal insufficiency, Abnormal morpho...	ORPHA:971
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis, Hand polydactyly	OMIM:235740
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Neph...	ORPHA:1837
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Talipes equinovarus, Short...	OMIM:618845
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Renal agenesis, Camptodactyly of finger, Type B brac...	ORPHA:1471
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney, Absent thumb, Absent radius	OMIM:179280
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Renal...	ORPHA:1307
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Broad hallux, Renal agenesis, Radioulnar synostosis, Hypoplasia of the radius, ...	OMIM:212780
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Syndactyly	ORPHA:294975
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of...	ORPHA:2256
Coloboma Of Macula With Type B Brachydactyly	Broad distal phalanx of the thumb, Renal agenesis, Type B brachydactyly, Absent distal phalanges,...	OMIM:120400
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Humeroradial synostosis	OMIM:614416
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly	OMIM:600151
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th...	OMIM:617926
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Hy...	OMIM:615996
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Bardet-Biedl Syndrome 5	Micropenis, Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger	OMIM:601355
Split-Hand/Foot Malformation 3	Camptodactyly, Renal hypoplasia, Split hand	OMIM:246560
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insuff...	OMIM:615993
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Radioulnar sy...	OMIM:614900
Joubert Syndrome 22	2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:615665
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal morpholo...	ORPHA:3104
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease...	OMIM:614376
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Adams-Oliver Syndrome 6	Foot oligodactyly, Renal hypoplasia, Brachydactyly, Syndactyly	OMIM:616589
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Toe syndactyly, Renal agenesis, Umbilical hernia, Bowing of the long bones, Rad...	ORPHA:171839
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Single transverse palmar crease, 2-3 toe sy...	OMIM:236500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping fingers...	OMIM:618142
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop...	OMIM:601389
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma...	OMIM:201170
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia	OMIM:617661
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Bardet-Biedl Syndrome 4	Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly	OMIM:615982
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology	OMIM:617784
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Schizophrenia 1	Renal agenesis, Short proximal phalanx of the 4th toe, Partially duplicated kidney, Ectopic kidne...	OMIM:181510
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Micromelia, Polydactyly, ...	OMIM:614091
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Cutaneous syndactyly of toes, Umbilical hernia, Vesi...	OMIM:619217
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis, Finger joint hypermobility	OMIM:244200
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E...	OMIM:201250
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, 2-3 toe syndactyly, Talipes equinovarus, Brachydactyly, Clinodactyly o...	ORPHA:3306
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow	ORPHA:3268
ERI1-related disease	Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Limited...	OMIM:608739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Umbilical hernia, Oligodactyly, Absence of renal corticomedullary differentiati...	OMIM:619758
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Acrocyanosis, Death in childhood, Short finger	OMIM:302000
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Nager Syndrome	Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Tri...	ORPHA:245
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hip ...	OMIM:616362
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ectopic k...	OMIM:146510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Deviation of finger	ORPHA:1450
Vacterl Association With Hydrocephalus	Radial club hand, Renal hypoplasia, Absent thumb	OMIM:276950
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Horseshoe kidney,...	OMIM:600057
Even-Plus Syndrome	Epiphyseal dysplasia, Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femo...	OMIM:616854
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Clinodactyly of the 5th finge...	ORPHA:521308
Lower Limb Malformation-Hypospadias Syndrome	Abnormal tibia morphology, Abnormality of the ureter, Hypospadias	ORPHA:2487
Burn-Mckeown Syndrome	2-3 toe syndactyly, Unilateral renal agenesis, Renal hypoplasia	OMIM:608572
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria, Camptodactyly, Rock...	OMIM:604273
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Clubbing, Reticular patter...	OMIM:610921
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux	ORPHA:2512
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria, Radial bowing	OMIM:617993
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia	ORPHA:141152
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Multicystic kidney dysplasia, Elbow dislocation, Short thumb, Ectrodactyly, Ho...	ORPHA:2538
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Absent thumb, Rena...	OMIM:607323
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Sandal gap, Camptodactyly of finger, Vesicoureteral reflux, Single tra...	OMIM:619951
Perching Syndrome	Respiratory distress, Camptodactyly, Cyanosis	OMIM:617055
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d...	OMIM:102510
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping fingers, Overl...	OMIM:618494
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Branchial cyst, Renal cyst, Hip...	OMIM:615583
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Abnormal limb bone morphology, Abnormality of the kidney	OMIM:118100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contra...	OMIM:618914
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius	OMIM:179250
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Jeune Syndrome	Nephropathy, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, Nephronophthisis...	ORPHA:474
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Hydronephrosis, Hypoplasia of the...	OMIM:602418
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Broad thumb, Finger syndactyly, Tibial torsion, Horseshoe kidney...	ORPHA:3320
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypoplasia of the ulna, ...	ORPHA:2491
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly, Short fourth metatarsal	ORPHA:464288
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Braddock Syndrome	Unilateral renal agenesis, Preaxial hand polydactyly	ORPHA:52047
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ca...	OMIM:113000
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Camptodactyly of finger, Abnormality of the wri...	ORPHA:3138
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low...	ORPHA:93356
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ectopic k...	OMIM:610832
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Absent radius, Ureteral dupl...	OMIM:602200
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Humeroradial synostosis, Talipes equinovarus...	OMIM:251230
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Hallux valgus, Meningocele	OMIM:620511
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Postaxial hand polydactyly, R...	ORPHA:85284
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot	DECIPHER:46
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Renal hypoplasia, Spinal dysraphism, Sandal gap, Nephroblastoma	OMIM:612918
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Patellar hypoplasia, Ureteral stenosis, Apnea, Cyanosis, Ta...	ORPHA:2257
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Hypoplastic scapulae, Congenital hip dislocation, Finger syndactyly, U...	OMIM:308050
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Short long ...	OMIM:619751
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Renal agenesis	OMIM:601076
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Short 1st metacarpal, Absent thumb, Short thumb, Horseshoe kidney, Vesicoureter...	OMIM:609053
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias, Clinodactyly	OMIM:300934
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re...	OMIM:216360
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy, Umbilical hernia	OMIM:254120
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Meckel Syndrome 12	Renal hypoplasia, Rocker bottom foot, Ureteral hypoplasia, Bilateral renal agenesis	OMIM:616258
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Talipes equinovarus, Adducted thumb, Hip dislocation	OMIM:616603
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs,...	ORPHA:1046
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Short tibia, Short thumb, Sandal gap, Radial club hand, Bilateral single transv...	ORPHA:1972
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Overlapping toe,...	ORPHA:363444
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia	ORPHA:2252
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea...	OMIM:164900
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne...	ORPHA:2032
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiph...	OMIM:101800
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot	OMIM:183700
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Intellectual Developmental Disorder, Autosomal Dominant 72	Micropenis, Renal hypoplasia, Broad palm, Spina bifida	OMIM:620439
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Postaxial polydactyly, H...	OMIM:614576
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon...	OMIM:114150
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis, Short long bone, Bilateral talipes equinovarus	OMIM:620454
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti...	OMIM:113650
Acrodysostosis	Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Short toe, Micromelia, Abnormal diaphysi...	ORPHA:950
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly	OMIM:605231
Poland Syndrome	Small hand, Finger syndactyly, Ureterocele, Encephalocele, Renal hypoplasia/aplasia, Aplasia/Hypo...	ORPHA:2911
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviatio...	OMIM:154400
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Sh...	OMIM:618188
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Micromelia, Respiratory distress, Death in infancy, Bo...	ORPHA:166272
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoureteral reflux, 2-3 finger synd...	OMIM:603467
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing	ORPHA:2768
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta...	ORPHA:2502
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Postaxial hand polydactyly	ORPHA:75389
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq...	ORPHA:93307
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ...	OMIM:228900
Marden-Walker Syndrome	Renal hypoplasia, Joint contracture of the hand, Arachnodactyly, Talipes equinovarus, Radioulnar ...	OMIM:248700
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Horseshoe kidney, Abnormality of the wrist, Radioulnar synostosis, A...	ORPHA:2319
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Renal dysplasia, Preaxial polydactyly, Acetabular spurs...	OMIM:613091
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung ...	ORPHA:1765
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Encephalocel...	OMIM:616300
Diaphanospondylodysostosis	Respiratory distress, Narrow pelvis bone, Myelomeningocele, Multiple renal cysts	ORPHA:66637
Shashi-Pena Syndrome	Unilateral renal agenesis, Deep palmar crease, Short metacarpal	OMIM:617190
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
6P22 Microdeletion Syndrome	Hydronephrosis, Finger syndactyly, Clinodactyly	ORPHA:251046
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys...	OMIM:177170
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Down-sloping shoulders	OMIM:616817
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Mesomelic leg shortening, Fibular aplasia, Limited elbow extension an...	OMIM:605274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly, Humeroradial synostosis, Arac...	ORPHA:95699
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis, Abnormal distal phalanx morphology of finger, Abnormal metacarpal morp...	ORPHA:2673
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Renal agenesis, Postaxial hand polydactyly	ORPHA:2155
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Laurence-Moon Syndrome	Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Displacement ...	ORPHA:2377
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Abnormal localization of ...	ORPHA:1825
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ...	OMIM:300554
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Clinodactyly, Limb undergrowth, Micropenis, Ectopic ...	OMIM:616541
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi...	OMIM:263650
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,...	OMIM:609638
Polysyndactyly With Cardiac Malformation	Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in...	ORPHA:2970
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered finger, Camptod...	OMIM:616737
12Q14 Microdeletion Syndrome	Horseshoe kidney, Clinodactyly of the 5th finger, Renal hypoplasia, Ectopic kidney	ORPHA:94063
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Fibular bowing,...	OMIM:300009
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Single transverse palmar crease, Fib...	OMIM:227270
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Ureteropelv...	OMIM:618975
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Small then...	OMIM:613390
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Hyperechogenic kidneys, Ulnar bowing, Single tra...	OMIM:617866
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Single transverse palmar crease	OMIM:619053
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Umbilical hernia, Abnormality of the ureter, Genu valgum, Arachnodactyly	ORPHA:1035
Silver-Russell Syndrome 1	Urethral valve, Abnormality of the ureter, Nephroblastoma, Clinodactyly of the 5th finger, Short ...	OMIM:180860
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h...	ORPHA:3447
Van Maldergem Syndrome 1	Renal hypoplasia, Clinodactyly, Cutaneous finger syndactyly, Short clavicles, Talipes equinovarus...	OMIM:601390
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Clubbing, Dyspnea, Hy...	ORPHA:79127
Van Maldergem Syndrome 2	Renal hypoplasia, Cutaneous syndactyly of toes, Clinodactyly, Cutaneous finger syndactyly, Short ...	OMIM:615546
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Recurrent urinary tract ...	OMIM:609029
Neuralgic Amyotrophy	Acrocyanosis, Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl...	OMIM:615986
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Severe Acute Respiratory Syndrome	Acute kidney injury, Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia	ORPHA:140896
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration, Renal cell carcinoma	ORPHA:122
Beaulieu-Boycott-Innes Syndrome	Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections	OMIM:613680
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Respiratory distress, Postaxial...	OMIM:617102
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Short distal phalanx of the 5th finger, Short metacarpa...	OMIM:620662
Radio-Renal Syndrome	Multicystic kidney dysplasia, Chylothorax, Micromelia, Renal agenesis, Respiratory distress, Pleu...	ORPHA:3015
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Short foot, Abnormal ulnar metaphysis morphology, Narrow palm	ORPHA:177910
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Dyspnea, Recurrent ...	ORPHA:60033
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Radial bowing, Renal insufficiency, Brachydactyly, Shor...	OMIM:602152
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic...	ORPHA:60025
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Absent radius, Micropenis, Bilateral t...	OMIM:614083
Cornelia De Lange Syndrome 1	Dislocated radial head, Ectopic kidney, Hypospadias, Reduced renal corticomedullary differentiati...	OMIM:122470
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dislocation, Sandal gap, Ti...	OMIM:108721
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Limb undergro...	OMIM:269860
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single trans...	ORPHA:264200
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme...	OMIM:151210
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Encephalocele, 2-3 toe syndactyly, ...	OMIM:264480
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Bifid distal phalanx of toe, Cutaneous finger syndactyly, Limited elbo...	OMIM:618419
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Abnormal renal corticomedullary differentiation, Renal dysplasia, Pulmonary...	OMIM:616733
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Short distal phalanx of the thumb, Con...	ORPHA:221139
Dysspondyloenchondromatosis	Genu valgum, Abnormal ulnar metaphysis morphology, Abnormal fibula morphology, Metaphyseal enchon...	ORPHA:85198
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Syndactyly	OMIM:615284
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Ectopic kidney, Aplasia o...	OMIM:617247
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Cerebrofacioarticular Syndrome	Renal hypoplasia, Caudal appendage, Talipes equinovarus, Camptodactyly, Hypospadias, Syndactyly	ORPHA:314679
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Short distal phalanx of finger, Hypoplastic scapulae, Cone-shaped epiphysis, Sho...	OMIM:210720
Renal And Mullerian Duct Hypoplasia	Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia	OMIM:266810
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Carpal bone hypoplasia...	ORPHA:93314
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,...	OMIM:619194
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Brachydacty...	OMIM:620654
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ...	ORPHA:70587
Lethal Recessive Chondrodysplasia	Micromelia, Respiratory distress, Flared elbow metaphyses, Limb undergrowth, Short long bone	ORPHA:1423
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elbow dislocation, Short ...	ORPHA:1106
Shox-Related Short Stature	Genu valgum, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubitus valgus, Lo...	ORPHA:314795
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Genu valgum, Fibular bowing, Femoral bowing, ...	OMIM:600785
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Finger syndactyly, Abnormality of the upper urinary tract...	ORPHA:2145
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Emanuel Syndrome	Micropenis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation	ORPHA:96170
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Respiratory distress, Glandular hypospadias, Penile hypospadias, Death in infancy, N...	OMIM:300219
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Holzgreve Syndrome	Renal hypoplasia/aplasia, Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology o...	ORPHA:2167
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Hypospadias, Renal hypoplasia, Broad thumb, Broad hallux, Renal agenesis, Preax...	ORPHA:508498
Malaria	Respiratory distress, Acute kidney injury	ORPHA:673
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Toe syndactyly, Polydactyly, Hydronephrosis, Renal cyst, ...	ORPHA:464306
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Clubbing, Dyspnea, Abnormal pulmonary inter...	OMIM:612387
Andersen-Tawil Syndrome	Renal hypoplasia, Small hand, Renal tubular dysfunction, 2-3 toe syndactyly, Clinodactyly of the ...	ORPHA:37553
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera...	ORPHA:2437
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Hypospadias, Ren...	OMIM:107480
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly	OMIM:300337
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Cyanosis, Bowing of the long bones, Postaxia...	OMIM:619879
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Talar aplasia, Recurrent urinary tract infections, Umbilical hernia, Hydronephros...	OMIM:619218
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Respiratory distress, Acetabu...	OMIM:617303
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of th...	ORPHA:457284
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys	OMIM:617914
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Hypoplasia of penis...	ORPHA:2547
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Cutaneous finger syndactyly, Ab...	ORPHA:896
Kinsship Syndrome	Renal hypoplasia, Horseshoe kidney, Single transverse palmar crease, Fibular hypoplasia, Polydact...	OMIM:619297
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino...	OMIM:620663
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Radial Aplasia, X-Linked	Penile hypospadias, Absent radius	OMIM:312190
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol...	ORPHA:88630
Verloove Vanhorick-Brubakk Syndrome	Abnormal localization of kidney, Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnor...	ORPHA:3429
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Epiphyseal dysplasia, Renal hypoplasia, Nephrocalcinosis, Congenital hip dislocati...	OMIM:617913
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand polydactyly,...	ORPHA:1520
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi...	ORPHA:2839
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Hip dysplasia, Clinodac...	OMIM:617219
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Short toe, Hydronephrosis, Renal cyst, Flexion contractur...	ORPHA:464311
Monosomy 5P	Small hand, Finger syndactyly	ORPHA:281
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Hypoplasia of t...	ORPHA:2249
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Respiratory distress, Horseshoe kidne...	ORPHA:93260
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Broad thumb, Finger syndactyly, Pyelonephritis, Rena...	OMIM:181270
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Cach Syndrome	Renal hypoplasia	ORPHA:135
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe...	ORPHA:672
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Increased level of methylsuccinic acid in urine, Ethylmalonic aciduria	ORPHA:26792
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Vesicoureteral reflux	OMIM:606408
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Talipes equinovarus, Camptodactyly of finger	OMIM:614399
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda...	OMIM:607143
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular aplasia, H...	ORPHA:3404
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvi...	OMIM:208500
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia	OMIM:614922
Bnar Syndrome	Abnormal fifth toe morphology, Renal agenesis	ORPHA:217266
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Rauch-Steindl Syndrome	Clinodactyly of the 5th finger, Bilateral renal hypoplasia, Hyperechogenic kidneys	OMIM:619695
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Tr...	OMIM:307800
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia, Club...	ORPHA:747
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Short...	OMIM:164745
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Isolated Atp Synthase Deficiency	Renal hypoplasia, 3-Methylglutaconic aciduria	ORPHA:254913
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Alfadhel Syndrome	Horseshoe kidney, Talipes equinovarus, Nasal flaring	OMIM:620655
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Arachnodactyly, Short palm, Feta...	ORPHA:73246
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Short 1st metacarpal, Micromelia, Small hand, Elbow...	ORPHA:199
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment...	OMIM:600325
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Homocystinuria, Methylmalonic aciduria, Respiratory distress, Jaundice	OMIM:250940
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar...	OMIM:609945
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Elbow flexion contracture, Acetabular dysplasia, Hip contracture, Wrist fle...	ORPHA:1143
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Micropenis, Clubbing of fingers	ORPHA:335
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Respiratory distress, Bowing of the legs, Femoral b...	OMIM:100800
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Hip dislocation, Dumbbell-shaped femur, Flared metap...	OMIM:156550
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Bulging epiphy...	OMIM:241530
Dworschak-Punetha Neurodevelopmental Syndrome	Unilateral renal hypoplasia, Vesicoureteral reflux	OMIM:619955
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib...	OMIM:178500
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho...	ORPHA:50251
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene...	OMIM:620305
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Acromesomelic Dysplasia 4	Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t...	OMIM:619636
Baller-Gerold Syndrome	Radial deviation of the hand, Absent thumb, Patellar hypoplasia, Carpal synostosis, Oligodactyly,...	OMIM:218600
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Clinodactyly, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Postaxial poly...	OMIM:618460
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Renal agenesis, Abnormality of the ureter, Renal insuffic...	ORPHA:3027
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Spina bifida occulta, Unilateral renal agenesis, Renal agenesis	OMIM:619227
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Hypospadias, Syndactyly	OMIM:619736
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin...	OMIM:250220
Chitayat Syndrome	Respiratory distress, Hallux valgus, Brachydactyly, Abnormal pulmonary interstitial morphology, R...	OMIM:617180
Diaphanospondylodysostosis	Pulmonary hypoplasia, Nephrogenic rest, Respiratory distress, Horseshoe kidney, Nephroblastomatos...	OMIM:608022
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Arachnodactyly, Abnor...	ORPHA:261222
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Apnea, Cyanosis...	ORPHA:2886
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Duplicated collecting system, Hypospadias, Hip dislo...	OMIM:270400
Mungan Syndrome	Renal hypoplasia, Vesicoureteral reflux	OMIM:611376
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Weismann-Netter Syndrome	Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Grant Syndrome	Tibial bowing, Down-sloping shoulders	OMIM:138930
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Clinodactyly, Overlapping toe, Hydronephrosis, Tapered finger, Camptod...	ORPHA:487796
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Osteogenesis Imperfecta, Type X	Recurrent pneumonia, Rhizomelia, Micromelia, Respiratory distress, Genu valgum, Fibular bowing, D...	OMIM:613848
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Organic aciduria	OMIM:614741
Congenital Disorder Of Glycosylation, Type Ie	Small hand, Upper limb undergrowth, Respiratory distress, Telangiectasia, Camptodactyly, Patent d...	OMIM:608799
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr...	OMIM:231680
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Talipes equinovarus, Recurrent acute respiratory tract infection, Paradoxic...	OMIM:620011
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Respiratory distress, Postaxial polydactyly, ...	OMIM:617895
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Hypospadias, Syndactyly	OMIM:239710
Tetrasomy 5P	Respiratory distress, Overlapping toe, Cyanosis, Talipes equinovarus, Short hallux, Long fingers,...	ORPHA:3309
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
Joubert Syndrome 33	Syndactyly	OMIM:617767
Endocrine-Cerebroosteodysplasia	Sandal gap, Microphallus, Preaxial polydactyly, Micromelia, Hyperechogenic kidneys, Fibular bowin...	OMIM:612651
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral re...	OMIM:618454
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal lung lobation, Abnormality of the ...	ORPHA:3378
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease	OMIM:218550
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Polydactyly	ORPHA:137914
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S...	OMIM:619451
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Proximal tubulopathy, Aminoaciduria	OMIM:612075
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:600906
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short hallux, Abnormality of the kidney, Short 5th finger, Bilateral renal hypopl...	ORPHA:508488
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Nephroblastoma, Syndactyly	OMIM:602501
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Umbilical hernia, Abnormality of the ureter, Bilateral single transverse palmar crea...	ORPHA:1770
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Respiratory distress, Glandular hypospadias, Talipes equinovarus, Pneumothorax, Shor...	OMIM:620306
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia...	ORPHA:2473
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology, Short hallux, Hypospadias	ORPHA:3224
Joubert Syndrome 17	Postaxial polydactyly, Abnormal renal morphology, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Phakomatosis Pigmentokeratotica	Hemiatrophy, Unilateral renal hypoplasia, Nephroblastoma, Renal transitional cell carcinoma, Spin...	ORPHA:2874
Kury-Isidor Syndrome	Finger syndactyly, Hydronephrosis, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bott...	OMIM:619762
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodact...	ORPHA:261337
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration	ORPHA:77260
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Genu valgum, Cyanosis, Proteinuria,...	ORPHA:488627
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5t...	ORPHA:397590
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Long palm, Arachnodactyly, Dyspnea, Clinodactyly of the 5th finger, Recurre...	ORPHA:2759
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Renal agenesis	OMIM:608980
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Small hand, Penoscrotal hypospadias, Syndactyly	OMIM:616489
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Overlapping toe, Talipes equinovarus, Long fingers, Postaxial hand pol...	OMIM:213980
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Avian Influenza	Pneumonia, Acute kidney injury, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, ...	ORPHA:454836
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux	OMIM:617660
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Renal insufficiency, Cyanosis, Death in infancy, Renal cyst, Partial anomalous p...	OMIM:617478
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Micropenis, Death in childhood	OMIM:615597
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Postsynaptic Congenital Myasthenic Syndromes	Shoulder girdle muscle weakness, Cyanosis, Triceps weakness, Abnormality of the musculature of th...	ORPHA:98913
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Renal agenes...	OMIM:277170
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem...	OMIM:314390
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis, P...	OMIM:260400
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Preaxial polydactyly	OMIM:243605
Temtamy Preaxial Brachydactyly Syndrome	Tibial deviation of the 2nd toe, Clinodactyly of the 2nd finger, Radial deviation of finger, Cuta...	ORPHA:363417
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda...	OMIM:613684
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia	ORPHA:1302
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Pleural effusion, Cyanosis	ORPHA:2414
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Ulnar deviation of the ...	OMIM:600383
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones	OMIM:619793
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Recurrent res...	ORPHA:30
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Hydroureter, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Hydronephrosis, Abnor...	ORPHA:2273
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Hip dislocation, Renal dysplasia, Respiratory distress, Postaxial polydactyly, Hydron...	OMIM:300968
Matthew-Wood Syndrome	Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux	ORPHA:2470
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Branchial cyst, Single transverse palmar crease, Camptodactyly, Hypospadias, T...	ORPHA:435938
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Triph...	ORPHA:2994
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Respiratory distress, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cut...	OMIM:616482
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, Short foot, ...	OMIM:166250
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p...	ORPHA:1553
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Single transverse palmar crease, Hydronephrosis, Cubitus ...	ORPHA:96121
Meier-Gorlin Syndrome 1	Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v...	OMIM:224690
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Avascular necrosis of the capital femoral epiphysis,...	OMIM:212720
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hypoplasia of the ra...	OMIM:617604
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Renal agenesis, Renal dysplasia	ORPHA:2578
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Townes-Brocks Syndrome	Toe clinodactyly, Renal hypoplasia, Toe syndactyly, Broad thumb, Ulnar deviation of finger, Preax...	ORPHA:857
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m...	ORPHA:3035
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Ves...	ORPHA:2363
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Hip dislocation	OMIM:614100
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Tibial bow...	OMIM:211350
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ...	OMIM:223800
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly, Hip dislocation	ORPHA:171719
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, Fibular bowin...	ORPHA:1427
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape...	OMIM:210600
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria	ORPHA:79284
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact...	OMIM:613573
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Grange Syndrome	Finger clinodactyly, Renal artery stenosis, Brachydactyly, Renovascular hypertension, Syndactyly	OMIM:602531
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Cyanosis, Single transverse palmar crease, 2-3 toe syndactyly, Patent ductus ar...	ORPHA:3304
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Al-Gazali Syndrome	Broad distal phalanx of finger, Hydronephrosis, Wrist flexion contracture, Bowed humerus, Bilater...	OMIM:609465
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr...	ORPHA:60032
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Dilatation of the renal pelvis, Short 5th toe, 2-4 toe cutaneous synda...	ORPHA:268261
Atelosteogenesis, Type I	Rhizomelia, Radial bowing, Elbow dislocation, Short finger, Fibular aplasia, Encephalocele, Tibia...	OMIM:108720
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Umbilical hernia, Bi...	ORPHA:1001
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys...	OMIM:618019
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia of the bladder,...	OMIM:200980
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fra...	ORPHA:79404
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney	ORPHA:3109
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Multiple sm...	OMIM:118450
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Metaphyseal irregularity, Metaphyseal cupping, Irregular iliac crest, ...	ORPHA:99646
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Clinodactyly, Respiratory distress, Brachydactyly, Proximal placement of thumb, Pate...	OMIM:217980
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Hand clenching	ORPHA:240103
Campomelic Dysplasia	Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Hydronephros...	ORPHA:140
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla...	OMIM:263750
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Renal hypoplasia, Absent thumb, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Congenital Tracheal Stenosis	Abnormal lung lobation, Respiratory distress, Abnormality of the ureter, Anomalous origin of left...	ORPHA:141127
Roberts Syndrome	Long penis, Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger...	ORPHA:3103
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu...	ORPHA:36238
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Clubbing, Pleural...	ORPHA:2038
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert...	OMIM:610978
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th finger, Acrocyanosis, ...	OMIM:614407
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Vacterl/Vater Association	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Finge...	ORPHA:887
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Respiratory dis...	ORPHA:226313
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Abnormality of the ureter, Spina bi...	ORPHA:2311
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Hypospadias	OMIM:619334
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Ring Chromosome 21 Syndrome	Small hand, Syndactyly, Clinodactyly, Narrow palm	ORPHA:1445
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Hypospadias, Syndactyly	OMIM:220210
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Complete d...	OMIM:201000
W Syndrome	Clinodactyly, Radial bowing, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu...	ORPHA:2804
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Apnea, Ketonuria, Cyanosis	OMIM:261680
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Renal agenesis, Preaxial polydactyly, Vesicoureteral reflux...	OMIM:192350
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Dilatation of the renal pe...	OMIM:600920
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of ...	ORPHA:1234
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers...	OMIM:615777
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	OMIM:272440
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbo...	ORPHA:1692
Aredyld Syndrome	Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Ureteral triplication, Hydronephrosis, Cubitus valg...	OMIM:104350
Tarp Syndrome	Clinodactyly, Horseshoe kidney, Single transverse palmar crease, Hydronephrosis, Talipes equinova...	OMIM:311900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Micropenis, Patent ductus arteriosus, Postaxial hand polydactyly	ORPHA:2519
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Anterior encephalocele, Short femur	OMIM:601357
Camurati-Engelmann Disease	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Urinary retention, Abno...	ORPHA:1328
Hypophosphatasia	Emphysema, Abnormal metaphysis morphology, Bowing of the long bones	ORPHA:436
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Adducted thumb	ORPHA:89844
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormality of the ure...	ORPHA:1834
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Renal ...	ORPHA:958
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El...	OMIM:276820
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowin...	OMIM:602080
Leopard Syndrome 1	Unilateral renal agenesis, Limited elbow movement, Cubitus valgus, Scapular winging, Micropenis, ...	OMIM:151100
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Exertional dyspnea, Proximal upper limb muscle hypertrophy, Pulmonary...	ORPHA:254361
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Umbilical hernia, Emphysema, Arachnodac...	OMIM:219100
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Bilateral single transverse palmar ...	ORPHA:3253
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Laryngeal Abductor Paralysis	Talipes equinovarus, Cyanosis	OMIM:150260
Stt3B-Cdg	Respiratory distress, Micropenis	ORPHA:370924
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Sandal g...	OMIM:613177
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia	ORPHA:70588
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Abnorma...	ORPHA:52
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Renal insufficiency, Cyanosis, Renal tubular dysfunction, Episod...	ORPHA:31826
Congenital Heart Block	Cyanosis, Pleural effusion, Patent ductus arteriosus	ORPHA:60041
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Myopathy And Diabetes Mellitus	Respiratory distress, Hyporeflexia of upper limbs, Shoulder girdle muscle weakness	ORPHA:2596
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Abnorm...	OMIM:207410
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Hydro...	ORPHA:93271
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Abnormality of the ureter, Vesicoureteral reflu...	ORPHA:1225
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Bulgin...	OMIM:264700
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bulging epiphyses, Enlargement of the wrists, Fibular bowing, Fe...	OMIM:600081
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Abnormal hip bone morphology, Hypospadias	ORPHA:2522
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Hip dysplasia, Finger joint hypermobility, Metacarpophalangeal joint contra...	ORPHA:544503
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Hydronephrosis, Talipes equinovarus, Patent ductus arter...	OMIM:100100
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly	ORPHA:261272
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae, Ethylmalonic aciduria	OMIM:602473
Microphthalmia, Lenz Type	Hydroureter, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Renal hypo...	ORPHA:568
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Acrocyanosis, Short finger	ORPHA:1867
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic arm shortening, ...	OMIM:268305
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Renal hypoplasia, Hip dysplasia, Small hand	OMIM:620005
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis	OMIM:620321
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Hypos...	ORPHA:84
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Overtubulated long bones, Fla...	OMIM:618150
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Cyanosis, Hypospadias, Scrotal hypospadias	OMIM:250790
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia, Clubbing	ORPHA:439
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs...	ORPHA:49041
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Syndactyly	OMIM:616006
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Talipes equinovarus, Adducted th...	ORPHA:90348
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl...	ORPHA:93317
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Cyanosis, Abnormality of the lower urinary ...	ORPHA:391428
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Toe syndactyly, Short thumb, Bilateral renal hypoplasia...	OMIM:619488
Teebi-Shaltout Syndrome	Caudal appendage, Ureteral stenosis, Horseshoe kidney, Single transverse palmar crease, Hydroneph...	OMIM:272950
Goldberg-Shprintzen Megacolon Syndrome	Hypospadias, Finger syndactyly	ORPHA:66629
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hypoplastic ilia, Bruising susceptibility, Atelectasis, Respiratory distress, Dysplasia of the fe...	ORPHA:536467
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Renal insufficiency	ORPHA:79312
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Renal hypoplasia, Genu valgum	OMIM:619321
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Recurrent pneumonia	ORPHA:254875
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ...	ORPHA:1786
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation, Polydactyly	ORPHA:314655
Succinic Acidemia	Respiratory distress	OMIM:600335
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Renal malrotation	OMIM:601186
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Cyanotic episode	ORPHA:284417
Zttk Syndrome	Unilateral renal agenesis, Small hand, Horseshoe kidney, Polyuria, Short foot	OMIM:617140
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Pleural effusion, Dyspnea, Hypersensitivity pneumon...	ORPHA:2902
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Absent ra...	OMIM:227650
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro...	OMIM:236700
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Pleural effusion, Renal insufficiency, Hematuria, Proteinuria, Glomerulopa...	ORPHA:36412
Cloacal Exstrophy	Hip dislocation, Hydroureter, Ureterocele, Abnormal tibia morphology, Myelomeningocele, Horseshoe...	ORPHA:93929
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Absent radius, Duplicated collecting...	OMIM:600901
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis...	OMIM:268310
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Renal hypoplasia, Recurrent urinary tract infections, Cubitus val...	OMIM:617157
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hallu...	ORPHA:2008
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Umbilical hernia, Ketonuria, Syndactyly	OMIM:614520
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Abnormal epiphysis morphology, Renal insufficiency, ...	ORPHA:191
Fraser Syndrome 3	Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Ureteral agenesis, Cutaneous synd...	OMIM:617667
Feingold Syndrome Type 1	Nephritis, Toe syndactyly, Short thumb, Renal dysplasia, Horseshoe kidney, Short middle phalanx o...	ORPHA:391641
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Respiratory d...	ORPHA:93259
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Prominent fingertip pads, Sandal gap, Umbilical hernia, Short dist...	OMIM:135900
Bladder Exstrophy	Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ...	ORPHA:93930
Cri-Du-Chat Syndrome	Single transverse palmar crease, Metatarsus adductus, Abnormality of the kidney, Short metatarsal...	OMIM:123450
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly...	OMIM:600987
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Rhizomelia, ...	OMIM:228520
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Short tubular bones of the hand, ...	ORPHA:56305
Breath-Holding Spells	Cyanosis	OMIM:607578
Fraser Syndrome 1	Renal hypoplasia, Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symphysis, Encephaloc...	OMIM:219000
Netherton Syndrome	Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney, Urtic...	ORPHA:634
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Total anomalous pulmonary venous return, Renal agenesis, Respiratory ...	OMIM:306955
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Broad metacarpals, Micromelia, Flared metaphysis,...	OMIM:271665
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Microphthalmia, Syndromic 6	Renal hypoplasia, Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar ...	OMIM:607932
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Syndactyly, Clinodactyly, Hemolytic-uremic syndrome	ORPHA:2169
Smith-Magenis Syndrome	Toe syndactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Hand polydactyly, Brachydact...	ORPHA:819
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal tibia morphology, Encephalocele, Anenc...	ORPHA:1335
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Overlapping fingers, Overlapping toe	OMIM:619383
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Reduced renal corticomedullary differentiation, Talipes equinovarus, Wrist ...	OMIM:618733
Mercury Poisoning	Respiratory distress, Acute kidney injury, Dyspnea, Interstitial pneumonitis	ORPHA:330021
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac...	ORPHA:2092
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Elbow flexion contracture, Interphalangeal joint contracture of finger, Hip...	ORPHA:1145
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Dumbbell-shaped long bone...	ORPHA:3144
White Forelock With Malformations	Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Alpha-1-Antitrypsin Deficiency	Emphysema, Nephrotic syndrome, Bronchiectasis, Bronchitis	ORPHA:60
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Femoral bowing, Tibial bowing, ...	OMIM:608940
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Ulnar bowing, Hypoplasia of t...	OMIM:619135
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal renal collecting system morphology, Methylmalonic aciduria, Respiratory distress, Apnea,...	ORPHA:17
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Talipes equinovar...	OMIM:134780
Peters-Plus Syndrome	Renal hypoplasia, Rhizomelia, Square pelvis bone, Short toe, Abnormal pelvic girdle bone morpholo...	OMIM:261540
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Single transverse palma...	ORPHA:915
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Congenital Myasthenic Syndrome	Congenital hip dislocation, Cyanosis, Episodic respiratory distress, Apneic episodes precipitated...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Cyanosis, Episodic respiratory distress, Apneic episodes precipitated...	ORPHA:98914
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hyp...	ORPHA:140952
Laryngotracheoesophageal Cleft	Dyspnea, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinovarus, Camptoda...	OMIM:617822
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Abnorma...	ORPHA:2980
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, ...	ORPHA:99106
Primary Ciliary Dyskinesia	Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov...	ORPHA:244
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Glandular hypospadias, Abnormal 5th finger morphology, ...	ORPHA:1439
Trisomy 20P	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal...	ORPHA:261318
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Abnormal pleura morphology, Cutis marmorata, Renal insufficiency, Hematuria, Pro...	ORPHA:183
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Patent ductus arteriosus, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Mosaic Trisomy 16	Short forearm, Clinodactyly, Short femoral neck, Short thumb, Horseshoe kidney, Large placenta, S...	ORPHA:1708
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers, Hypospadias	OMIM:618316
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move...	ORPHA:1826
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Respiratory distress, Hyperphosphaturia, Renal tubular dysfunction, De...	OMIM:220110
Oncogenic Osteomalacia	Renal phosphate wasting, Abnormality of the tarsal bones, Abnormal femur morphology, Hyperphospha...	ORPHA:352540
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Clinodactyly of ...	ORPHA:217346
Renpenning Syndrome 1	Renal hypoplasia, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb ...	OMIM:309500
Schisis Association	Renal agenesis, Micromelia, Encephalocele, Spina bifida, Anencephaly	ORPHA:63862
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Dextrocardia	Congenital hip dislocation, Abnormal lung lobation, Abnormality of the ureter, Abnormality of the...	ORPHA:1666
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Renal hypoplasia, Clinodactyly, Radial deviation of finger, Genu valgum, Vesicour...	OMIM:309580
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ...	OMIM:606763
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Arachnodactyly, Rocker bottom foot, Congenital hip dislocation	OMIM:271225
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hydroureter, Interphalangeal joint contracture of finger, Partial fu...	OMIM:305620
Orofaciodigital Syndrome Type 6	Renal agenesis, Finger clinodactyly, Preaxial polydactyly, Renal hypoplasia/aplasia, Hand polydac...	ORPHA:2754
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Pulm...	OMIM:233450
Microlissencephaly-Micromelia Syndrome	Micromelia, Respiratory distress, Bilateral single transverse palmar creases, Adducted thumb, Fet...	ORPHA:50810
Marshall Syndrome	Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the 4th finger, Wid...	OMIM:154780
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Enlarged kidney	OMIM:261740
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Apert Syndrome	Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca...	OMIM:101200
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Cyanosis, Sudden episodic apnea, Dicarboxylic aciduria	ORPHA:159
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Abnormal renal morphology, Short phalanx of finger, Complete dupl...	ORPHA:59315
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Respiratory distress, Proteinuria, Prolonged neonatal jaundice, Jaundi...	OMIM:274150
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Organic aciduria	ORPHA:79242
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Esophageal Atresia	Abnormality of the urinary system, Bronchitis, Clinodactyly, Renal agenesis, Respiratory distress...	ORPHA:1199
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Rena...	ORPHA:538
Adnp Syndrome	Urinary incontinence, Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broa...	ORPHA:404448
Episodic Ataxia Type 1	Respiratory distress, Hand clenching	ORPHA:37612
3-Methylglutaconic Aciduria, Type Viib	Brachioradialis areflexia, Recurrent pneumonia, Rhizomelia, Respiratory distress, 3-Methylglutaco...	OMIM:616271
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla...	OMIM:271640
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma, Neoplasm ...	ORPHA:2869
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Ureteral stenosis, Flared metaphysis, Cone-...	OMIM:309350
Kallmann Syndrome-Heart Disease Syndrome	Micropenis, Cyanosis, Pulmonary artery hypoplasia, Renal agenesis	ORPHA:2326
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd...	OMIM:305400
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Respiratory distress, Delayed pubic bone ossification, Limited elbow movemen...	OMIM:183900
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Charge Syndrome	Renal hypoplasia, Bifid femur, Short thumb, Renal agenesis, Umbilical hernia, Horseshoe kidney, D...	OMIM:214800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Triceps weakness	ORPHA:86812
Arterial Tortuosity Syndrome	Respiratory distress, Avascular necrosis of the capital femoral epiphysis, Prematurely aged appea...	ORPHA:3342
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Prominent superficial ve...	ORPHA:363705
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Hydronephrosis, Cubitus valgu...	ORPHA:1340
22Q11.2 Deletion Syndrome	Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Foot polydactyly, Arachnodactyly, Tali...	ORPHA:567
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Enlargement of...	OMIM:277440
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria	OMIM:212140
Peutz-Jeghers Syndrome	Nasal polyposis, Bladder polyp, Abnormality of the ureter, Clubbing, Clubbing of fingers	OMIM:175200
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Tetanus	Respiratory distress, Tachypnea, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:3299
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Tibial bowing	ORPHA:85165
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Megacystis, Respiratory distress, Vesicoureteral reflux, Abnormal pulmonary ...	ORPHA:209905
Filippi Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Enlar...	ORPHA:3255
Osteogenesis Imperfecta, Type Ii	Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Crumpl...	OMIM:166210
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Abnormal pattern of respiration, Single transverse palmar crease...	ORPHA:2896
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Respiratory distress, Horseshoe kidney, Postaxial polydactyly, Short clavi...	OMIM:617088
Constricting Bands, Congenital	Encephalocele, Talipes equinovarus, Hand polydactyly, Bladder exstrophy, Syndactyly	OMIM:217100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Apnea, Cyanosis	OMIM:619580
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Clinodactyly, Finger syndactyly, Male urethral meatus stenosis, Over...	ORPHA:464738
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Respiratory d...	ORPHA:333
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Bohring-Opitz Syndrome	Short toe, Overlapping toe, Vesicoureteral reflux, Mesomelic/rhizomelic limb shortening, Tapered ...	OMIM:605039
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Ectrodactyly, Renal dysp...	OMIM:308205
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Bifid ureter, Long hallux...	ORPHA:500095
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,...	OMIM:615989
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermittent hyperventilati...	ORPHA:348
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Recurrent pneumonia, Short 1st metacarpal, Umbilical hernia, Resp...	ORPHA:798
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal pelvis bone morphology, Abnormal femur morphology, Abnormal m...	ORPHA:249
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Finger syndactyly, Deep palmar crease, Clinodactyly of the 5th fing...	ORPHA:254346
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Tularemia	Respiratory distress, Pneumonia, Pleural effusion	ORPHA:3392
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Respiratory distress, Patent ductus arteriosus	OMIM:612863
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Epispadias, Brachydactyly, Abnormality of t...	ORPHA:3339
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa v...	OMIM:614701
Laryngomalacia	Respiratory distress	OMIM:150280
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephaloce...	ORPHA:2211
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger	ORPHA:1323
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Absent thumb, Slender long bone, Horseshoe kidney, Arachnodactyly, Bil...	ORPHA:500150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Slender finger, Internally rotated shoulders, Elbow flexion contractur...	OMIM:619503
Schwartz-Jampel Syndrome	Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo...	ORPHA:800
Bacterial Toxic-Shock Syndrome	Pneumonia, Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Respira...	ORPHA:36234
Synaptic Congenital Myasthenic Syndromes	Hand muscle weakness, Respiratory distress, Hypoventilation, Talipes equinovarus, Limited wrist e...	ORPHA:98915
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Umbilical hernia, Abnormality of the hand, Camptodactyly, Syndactyly	ORPHA:369891
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Williams Syndrome	Genu valgum, Radioulnar synostosis, Renal insufficiency, Renal duplication, Multiple renal cysts,...	ORPHA:904
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Absent radius, Duplicated collecting...	OMIM:227645
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Elbow dislocation, Slender long bone, Camptodac...	ORPHA:2554
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Respiratory distress, Overlapping toe, Clinodactyly of the 4th finger, ...	ORPHA:177907
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc...	OMIM:601559
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Si...	OMIM:619148
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Proximal muscle weakness in upper limbs, Upper limb amyotrophy	OMIM:620375
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Hand muscle atrophy, Dyspnea...	OMIM:211530
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme...	OMIM:615789
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Hydronephrosis, Hand polydactyly, Brachydactyly,...	ORPHA:7
Triploidy	Hypoplasia of penis, Hypospadias, Finger syndactyly, Meningocele	ORPHA:3376
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Umbilical hernia, Renal a...	OMIM:194050
Chiari Malformation Type Ii	Myelomeningocele, Cyanosis, Cervical myelopathy, Spina bifida	OMIM:207950
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna	OMIM:276822
Toxic Epidermal Necrolysis	Erythema, Abnormality of the urethra, Respiratory distress, Abnormal pleura morphology, Renal ins...	ORPHA:537
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Absent thumb, Short thumb, Renal agenesis, Preaxial hand polydactyl...	OMIM:227646
Omodysplasia 1	Rhizomelia, Short tibia, Limited elbow flexion, Umbilical hernia, Limited elbow extension, Short ...	OMIM:258315
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias	OMIM:619272
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Kbg Syndrome	Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	ORPHA:2332
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Horseshoe kidney, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Hyposp...	ORPHA:96182
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Broad hallux, Preaxial polydactyly, Unilateral renal hypoplasia, Postaxi...	OMIM:615948
Cranioectodermal Dysplasia 1	Chronic kidney disease, Short distal phalanx of finger, Rhizomelia, Renal magnesium wasting, Stag...	OMIM:218330
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B...	ORPHA:783
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Foot polydactyly, Hand polydactyly, Toe syndactyly, Finger syndactyly	ORPHA:60040
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Clinodactyly, Upper limb undergrowth, Hypoplastic iliac wing, Ava...	ORPHA:93315
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Microphthalmia, Syndromic 1	Renal hypoplasia, Joint contracture of the hand, Hydroureter, Clinodactyly, Prominent fingertip p...	OMIM:309800
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Syndactyly, Micropenis, Short metacarpal, Absent palmar crease	OMIM:614230
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung	ORPHA:142
X Small Rings	Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, 2-3 toe syndactyly, Cutaneous syn...	ORPHA:96201
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Micromelia, Finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb,...	ORPHA:1908
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Abn...	OMIM:209900
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea	ORPHA:2707
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Methylmalonic aciduria, Stage 5 chronic kidney disease, Tubulointerstitial ...	OMIM:251000
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Chand Syndrome	Short fifth metatarsal, Hydroureter, Atelectasis	ORPHA:1401
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli...	ORPHA:1005
Acrofacial Dysostosis, Palagonia Type	Spina bifida occulta, Short 4th metacarpal, Small hand, Finger syndactyly	ORPHA:1787
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Limited elbow extension, Palmoplantar cutis laxa, Hypospadias	OMIM:123790
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Respiratory distress, D...	ORPHA:340
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Peripheral pulmonary artery stenosis, Toe syndactyly, Hydroureter, Hypoplasia of the bladder, 3-4...	OMIM:300707
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ...	OMIM:143095
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Congenital Myopathy 22B, Severe Fetal	Tapered toe, Shoulder flexion contracture, Slender long bone, Respiratory distress, Elbow flexion...	OMIM:620369
Cartilage-Hair Hypoplasia	Small hand, Abnormal pelvic girdle bone morphology, Rhizomelia, Micromelia, Abnormal diaphysis mo...	ORPHA:175
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation of finger, Ca...	OMIM:249000
Lujo Hemorrhagic Fever	Oliguria, Atelectasis, Respiratory distress, Renal insufficiency, Ecchymosis, Purpura, Microscopi...	ORPHA:319213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Diamond-Blackfan Anemia 10	Respiratory distress, Ectopic kidney, Patent ductus arteriosus, Renal duplication	OMIM:613309
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Polydactyly, Hydronephrosis, Hip...	ORPHA:2729
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ...	OMIM:618426
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Pulmonary edema	ORPHA:79330
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Slender finger, Proximal placement of thumb, Preaxial hand polydactyly	OMIM:610536
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyperextensibility of ...	OMIM:151050
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, He...	ORPHA:505248
Arboleda-Tham Syndrome	Sandal gap, Recurrent respiratory infections, Enlarged proximal interphalangeal joints, Respirato...	OMIM:616268
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma	ORPHA:2890
Osteogenesis Imperfecta, Type Viii	Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Femoral retroversion, Short meta...	OMIM:610915
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping...	OMIM:265000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Prominent fingertip pads, Long fingers, Tapered finger	OMIM:619950
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Lacticaciduria	OMIM:615595
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Vesicoureteral reflux, Camptodactyly, Brachydactyly, Micropenis, Short...	OMIM:616894
Familial Visceral Myopathy	Hydroureter, Megacystis, Umbilical hernia, Camptodactyly of finger, Vesicoureteral reflux, Arachn...	ORPHA:2604
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Dislocated radial head, Hypospadias, Pa...	OMIM:180849
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Vesicoureteral reflux, Renal hypoplasia/aplasia,...	ORPHA:1896
Cardiogenic Shock	Oliguria, Cyanosis, Orthopnea, Dyspnea, Hypoxemia	ORPHA:97292
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung...	ORPHA:3384
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Radial deviat...	OMIM:305450
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Hypoplasia of penis	ORPHA:990
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Erythema, Nephrotic syndrome, Respiratory distress, Decreased...	OMIM:614748
Sarcoidosis, Susceptibility To, 1	Emphysema, Hypoxemia, Pleural effusion, Hypercalciuria, Clubbing, Dyspnea, Abnormal pulmonary int...	OMIM:181000
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hypoplasia of penis, ...	ORPHA:284160
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Displacement of the urethral mea...	ORPHA:1556
Fabry Disease	Nephropathy, Emphysema, Abnormal femur morphology, Renal insufficiency, Angiokeratoma, Hematuria,...	ORPHA:324
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper...	ORPHA:989
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Patent ductus arteriosus, Orthopnea, ...	ORPHA:980
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormal metacarpa...	ORPHA:974
Familial Dysautonomia	Abnormal pleura morphology, Renal insufficiency, Glomerulopathy, Abnormality of the kidney, Recur...	ORPHA:1764
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyly of the 5th f...	ORPHA:1352
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpa...	ORPHA:1507
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Increased urine alpha-ketoglutarate concentrati...	ORPHA:79500
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, C...	OMIM:148050
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Coccidioidomycosis	Pneumonia, Respiratory distress, Exudative pleural effusion, Renal insufficiency, Abnormal long b...	ORPHA:228123
Histiocytoid Cardiomyopathy	Pulmonary edema, Renal cyst, Tachypnea, Cyanosis	ORPHA:137675
Double Outlet Right Ventricle	Pulmonary artery atresia, Tachypnea, Cyanosis	ORPHA:3426
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia	OMIM:608013
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor...	ORPHA:2750
Congenital Disorder Of Deglycosylation 1	Small hand, Chondroitin sulfate excretion in urine, Respiratory distress, Keratan sulfate excreti...	OMIM:615273
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Glomerular sclerosis, Abnormal renal physio...	OMIM:223900
Syndromic Diarrhea	Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:84064
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f...	OMIM:227330
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Fibular hypoplasia,...	OMIM:300373
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Coxa valga, Short hallux, Ab...	ORPHA:1517
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Central hypoventilation, Cyanosis, Hypoventilation,...	ORPHA:293987
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibili...	OMIM:130050
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Cutis marmorata, St...	ORPHA:416
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finge...	ORPHA:158687
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio...	OMIM:601707
Focal Dermal Hypoplasia	Toe syndactyly, Foot polydactyly, Short metacarpal, Myelomeningocele, Brachydactyly, Postaxial ha...	OMIM:305600
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Exertional dyspnea, Dy...	OMIM:620233
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de...	OMIM:269500
Tuberous Sclerosis Complex	Chronic kidney disease, Generalized abnormality of skin, Respiratory distress, Stage 5 chronic ki...	ORPHA:805
Cat Eye Syndrome	Renal agenesis, Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Absent...	OMIM:115470
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, 3-hydroxydicarboxylic aciduria, Death in infancy, Lacticaciduria, Hypospadias	OMIM:252010
Cocaine Intoxication	Diffuse alveolar hemorrhage, Acute kidney injury, Respiratory distress, Pulmonary edema, Hematuri...	ORPHA:90068
Mgat2-Cdg	Respiratory distress, Patent ductus arteriosus, Brachydactyly, Recurrent upper and lower respirat...	ORPHA:79329
Adams-Oliver Syndrome 5	Umbilical hernia, Brachydactyly, Syndactyly	OMIM:616028
Biotinidase Deficiency	Myelopathy, Organic aciduria, Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Poems Syndrome	Metaphyseal sclerosis, Pleural effusion, Plethora, Acrocyanosis, Clubbing of fingers	ORPHA:2905
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis	OMIM:244400
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia...	OMIM:617925
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Respiratory distress, Interstitial pneumonitis, Membranous nephropathy, Tubulointersti...	ORPHA:37042
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Cyanosis, Aortopulmonary window, Patent ductus arterio...	ORPHA:97214
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Camptodactyly of finger	ORPHA:178303
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hand polydactyly, ...	ORPHA:1647
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia	OMIM:202650
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Hydroureter, Short 1st metacarpa...	OMIM:269150
Q Fever	Pneumonia, Respiratory distress, Pleural effusion, Hematuria, Abnormal pulmonary interstitial mor...	ORPHA:781
Stüve-Wiedemann Syndrome	Micromelia, Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, Genu...	ORPHA:3206
Prader-Willi Syndrome	Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Acromicria, Hip d...	OMIM:176270
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Distal femoral bowing, Enlargement of the wrists, Hyperphosphaturia, Tib...	ORPHA:289176
Meier-Gorlin Syndrome 7	Preaxial hand polydactyly, Vesicoureteral reflux, Aplasia/Hypoplasia of the patella, Urethral str...	OMIM:617063
Cleidocranial Dysplasia 1	Aplastic clavicle, Hypoplastic scapulae, Hip dislocation, Respiratory distress, Hypoplastic iliac...	OMIM:119600
Proboscis Lateralis	Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis	ORPHA:141099
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Abnormal epiphysis morphology, Oligosacchariduria, Atelectasis, ...	ORPHA:534
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia...	OMIM:187300
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:2907
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Aplasia/hypoplasia involving bones ...	ORPHA:221016
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinar...	OMIM:259900
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Aplastic clavicle, Finger syndactyly, Abnormal metaphysis morphology, ...	ORPHA:2658
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice	ORPHA:26793
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Abnormal thumb morphology, S...	ORPHA:93932
Cardiac Valvular Dysplasia 1	Hydroureter, Urethral diverticulum, Cyanosis, Hydronephrosis, Pulmonary artery atresia	OMIM:212093
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large hands, Aplasia/...	ORPHA:2636
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, Metaphyseal s...	ORPHA:221008
Japanese Encephalitis	Distal upper limb muscle weakness, Abnormal pattern of respiration, Respiratory distress, Elbow f...	ORPHA:79139
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Aplasia of the distal phalanges of the hand, Abnorma...	ORPHA:3472
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	2-3 toe syndactyly, Rhizomelia, 3-4 finger syndactyly, Hypospadias	OMIM:615877
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar...	ORPHA:2215
Myasthenia Gravis	Dyspnea, Acrocyanosis, Glycosuria	ORPHA:589
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ...	ORPHA:794
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropionic acid l...	OMIM:251100
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly	OMIM:618505
Relapsing Polychondritis	Erythema, Atelectasis, Abnormal pattern of respiration, Renal insufficiency, Hematuria, Proteinur...	ORPHA:728
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Oligosacchariduria, Respiratory tract infection	ORPHA:308552
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Renal dysplasia, Respiratory distress, Ov...	ORPHA:480880
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Proteinuria, Brachydacty...	OMIM:311200
Hamamy Syndrome	Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Short 2nd finger, ...	OMIM:611174
Fucosidosis	Mucopolysacchariduria, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Hydronephrosis, Patent ductus arteriosus	ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Overlapping toe, Contracture of the distal interphalangeal joint of the fin...	ORPHA:83617
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Brachydactyly, Nasal flaring, Pelvic kidney, Dilatation of renal...	ORPHA:466943
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Absent proximal phalanx of thumb, Short thumb, Broad hallux, Prea...	OMIM:149730
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Toe syndactyly, Hydroureter, Finger syn...	ORPHA:373
Idiopathic Hypereosinophilic Syndrome	Angioedema, Swelling of proximal interphalangeal joints, Respiratory distress, Cutis marmorata, P...	ORPHA:3260
Complete Atrioventricular Septal Defect	Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia	ORPHA:1329
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:555874
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Renal hypoplasia, Ureteral stenosis	OMIM:270100
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Hypospadias, Syndactyly	OMIM:129400
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Meier-Gorlin Syndrome 4	Emphysema, Slender long bone, Patellar aplasia	OMIM:613804
Neu-Laxova Syndrome 2	Rocker bottom foot, Toe syndactyly, Finger syndactyly, Spina bifida	OMIM:616038
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Respiratory distress, Death in childhood, Death in in...	OMIM:620278
Digeorge Syndrome	Unilateral renal agenesis, Umbilical hernia, Renal insufficiency, Hydronephrosis, Renal dysplasia	OMIM:188400
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Micropenis, Clinodactyly of the 5th finger, C...	ORPHA:96123
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, ...	ORPHA:818
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return	ORPHA:99104
Robinow Syndrome	Webbed penis, Short distal phalanx of finger, Multicystic kidney dysplasia, Radioulnar dislocatio...	ORPHA:97360
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Ketonuria, Methylmalonic aciduria	OMIM:251110
Acrocallosal Syndrome	Postaxial foot polydactyly, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Umbilic...	OMIM:200990
Neuroblastoma	Respiratory distress, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid,...	ORPHA:635
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, 4-Hydroxyphenylpyruvic aciduria, Jaundice, 4-hydroxypheny...	OMIM:617156
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Clinodactyly, Short thumb, Renal a...	ORPHA:2044
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dy...	ORPHA:365
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Long penis, Absent thumb, Clinodactyly, Radial deviation of finger, Horseshoe kid...	OMIM:268300
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Duplicated collecting system, Toe syndactyly, Hydroureter, Ureterocele, Megacystis, Ectrodactyly,...	OMIM:604292
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Loeys-Dietz Syndrome 4	Bruising susceptibility, Emphysema, Arachnodactyly, Talipes equinovarus, Pneumothorax, Protrusio ...	OMIM:614816
Listeriosis	Pneumonia, Acute kidney injury, Respiratory distress, Pyelonephritis, Jaundice, Miscarriage	ORPHA:533
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Tachypnea, Patent ductus arteriosus	ORPHA:3427
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Neurocardiofaciodigital Syndrome	Polydactyly, Vesicoureteral reflux, Syndactyly	OMIM:619869
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin	ORPHA:2314
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the radius, Short thumb, Aplasia/Hypoplasia of the patella, Metaphyseal str...	ORPHA:2909
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin	ORPHA:367
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Spina bifida occulta, Hypoplasia of...	ORPHA:2990
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Microme...	ORPHA:3107
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Oeis Complex	Congenital hip dislocation, Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Ren...	OMIM:258040
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea	ORPHA:99103
Jacobsen Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Short toe, Lon...	ORPHA:2308
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Respiratory distress, Renal insufficiency, Glomerulopathy, Jau...	ORPHA:79282
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pulmonary edema, Dyspnea	OMIM:115197
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Meier-Gorlin Syndrome 6	Sandal gap, Umbilical hernia, Emphysema, Patellar aplasia, Hip dysplasia, Recurrent respiratory i...	OMIM:616835
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Respiratory distress, Medullary nephrocalcinosis, Ab...	ORPHA:51608
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Finger syndactyly	ORPHA:1300
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea, Patent duct...	ORPHA:2299
Restrictive Dermopathy 1	Overtubulated long bones, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, Short um...	OMIM:275210
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Umbilical hernia, Ecchymosis, Talipes equinovarus, P...	ORPHA:287
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Neopl...	ORPHA:2908
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Palmoplantar keratoderma, Palmoplantar cutis gyrata, Umbilical hernia	ORPHA:1555
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati...	ORPHA:449395
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Neonatal Marfan Syndrome	Emphysema, Arachnodactyly, Long toe, Adducted thumb, Long fingers, Increased arm span, Hypoxemia	ORPHA:284979
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Umbilical hernia, Brachydactyly, Clinodactyly of the 5th finger, Ec...	ORPHA:1519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Dilatation of the renal pelvis, Overlapping fingers, Bilateral talipes eq...	OMIM:619708
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge...	OMIM:620029
Hartsfield Syndrome	Micropenis, Hypospadias, Ectrodactyly, Syndactyly	OMIM:615465
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Renal cyst, Hip dysplasia, Clinodactyly of the 5th finger, Hypospadias, Sy...	OMIM:616975
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Colchicine Poisoning	Respiratory distress, Oliguria, Renal insufficiency	ORPHA:31824
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the thumb	ORPHA:87
Lumbar Syndrome	Renal agenesis, Myelomeningocele, Vesicoureteral reflux, Renal duplication, Spina bifida, Micrope...	ORPHA:83628
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Renal insufficiency, Polydactyly, Renal cyst, Brachydactyly, Postaxial ...	OMIM:613610
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Atelectasis, Finger joint hypermobility, Talipes equinovarus, Pulmonary artery a...	OMIM:620371
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Hematuria, Proteinuria, Glomerulonephritis, Membran...	ORPHA:48435
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Hydranencephaly, Finger syndactyly, Clinodactyly, ...	OMIM:256520
Pachyonychia Congenita	Palmoplantar keratoderma, Palmoplantar blistering, Respiratory distress, Palmoplantar hyperhidros...	ORPHA:2309
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Multiple glomerular cysts, Episodic respiratory distress, Abnormal renal tubule morphology...	ORPHA:255210
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Infantile Krabbe Disease	Respiratory distress, Shoulder girdle muscle weakness	ORPHA:206436
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Cyanosis	OMIM:620423
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits, Prolonged neonatal jaundice, Jaundice	OMIM:256810
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Umbilical hernia, Respiratory distress, Pulmonary artery stenosis, Ureteral duplication, Patent d...	ORPHA:2255
Diphallia	Penoscrotal transposition, Renal malrotation, Absent thumb, Horseshoe kidney, Distal urethral dup...	ORPHA:227
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hypoplasia of proximal radius, Horseshoe kidney, Vesicoureteral reflux, Fibular hypop...	ORPHA:444077
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Horseshoe ki...	ORPHA:110
Proteus Syndrome	Pulmonary cyst, Finger syndactyly, Abnormal metacarpal morphology, Pulmonary bulla, Abnormal fing...	ORPHA:744
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Hennekam Syndrome	Horseshoe kidney, Ectopic kidney, Finger syndactyly, Camptodactyly of finger	ORPHA:2136
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan...	ORPHA:99125
Dubowitz Syndrome	Clinodactyly of the 5th finger, Hypospadias, Single transverse palmar crease, Syndactyly	OMIM:223370
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Vesicovaginal fistula, Carpal synostosis, Horseshoe kidney, Femora...	OMIM:201750
Cryptococcosis	Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea	ORPHA:1546
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis	ORPHA:1572
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Respiratory distress, Renal tubular acidosis, Prote...	ORPHA:358
Sarcoidosis	Nephrocalcinosis, Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Tubuloint...	ORPHA:797
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Hutchinson-Gilford Progeria Syndrome	Limited wrist movement, Generalized abnormality of skin, Premature skin wrinkling, Cyanosis, Shor...	ORPHA:740
Aspartylglucosaminuria	Aspartylglucosaminuria, Umbilical hernia, Abnormal morphology of ulna	ORPHA:93
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, F...	OMIM:216340
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad hallux, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Abnormality of the urinary system, Broad hallux, Abn...	ORPHA:353277
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Erythema, Respiratory distress, Dyspnea, Hypospadias, Epispadias	ORPHA:2556
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria	ORPHA:100050
Nocardiosis	Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis	ORPHA:31204
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly	ORPHA:1521
Coffin-Lowry Syndrome	Bifid sternum, Hyperextensibility of the finger joints, Cutis marmorata, Single transverse palmar...	OMIM:303600
Zygomycosis	Nephritis, Atelectasis, Renal insufficiency, Pleural effusion, Pneumothorax, Acute infectious pne...	ORPHA:73263
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Equinus calcaneus, Limited elbow extension, Reduced subcu...	OMIM:154700
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot	ORPHA:1974
Leptospirosis	Acute kidney injury, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Cellular urina...	ORPHA:509
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter...	OMIM:610655
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Death in childhood, Tachypnea, Recurrent respiratory infections, Pulmonary fibrosis	OMIM:618278
Genitourinary And/Or Brain Malformation Syndrome	Chordee, Urogenital sinus anomaly, Micropenis, Hypospadias, Syndactyly	OMIM:618820
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Abnormal penis morphology, Acute kidney injury, Moderate albuminuria, Generalized abno...	ORPHA:95455
Sotos Syndrome	Small cell lung carcinoma, Hip contracture, Talipes equinovarus, Large hands, Abnormality of the ...	ORPHA:821
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Recurrent lower respiratory tract infections, Atelectasis, Hypoventilation	ORPHA:258
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly	OMIM:210900
Ramos-Arroyo Syndrome	Respiratory distress, Patent ductus arteriosus	ORPHA:1051
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Viss Syndrome	Pulmonary artery aneurysm, Hip dislocation, Bruising susceptibility, Umbilical hernia, Emphysema,...	OMIM:619472
Fraser Syndrome	Toe syndactyly, Abnormality of the urinary system, Finger syndactyly, Umbilical hernia, Myelomeni...	ORPHA:2052
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Flushing	ORPHA:2131
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Umbilical hernia...	OMIM:618164
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Abnormal hand ...	ORPHA:464
Hypermobile Ehlers-Danlos Syndrome	Elbow dislocation, Bruising susceptibility, Umbilical hernia, Abnormality of the wrist, Cystocele...	ORPHA:285
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:1587
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Horseshoe kidney, Radioulnar synostosis, Cutaneous synd...	OMIM:619325
Criss-Cross Heart	Cyanosis	ORPHA:1461
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the...	OMIM:150230
Dermatomyositis	Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ...	ORPHA:221
Diaphragmatic Hernia 4, With Cardiovascular Defects	2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Finger syndactyly	OMIM:620025
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature skin wrinkling, Emphysema, Premature graying of hair, Papillary renal cell carcinoma, A...	ORPHA:363618
Aicardi-Goutières Syndrome	Micropenis, Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice	ORPHA:51
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Sandal gap, Umbilical hernia, Hydronephrosis, Cutaneous syndactyly, Long fingers	OMIM:620330
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Pleural effusion, Atelectasis	OMIM:306400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia	OMIM:305100
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly	ORPHA:1071
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Limited elbow movement, Arachno...	ORPHA:558
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Long hallux, Genu valgum, Arachnodactyly, Chordee, Urinary incontin...	ORPHA:261537
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodactyly, Talipes...	OMIM:610168
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Umbilical hernia, Absent distal phalanges, Deep palmar crease, Mi...	OMIM:612289
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia	OMIM:164310
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Genu valgum, Chordee, Abnormality of the kidney, Urinary incontinen...	ORPHA:2152
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, ...	OMIM:619534
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Tachypnea, Recurrent urinary tract infections	OMIM:613658
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Long hallux, Genu valgum, Arachnodactyly, Chordee, Urinary incontin...	ORPHA:261552
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Recurrent upper resp...	ORPHA:64
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:216694
Pmm2-Cdg	Aspiration pneumonia, Respiratory distress, Proteinuria, Abnormal subcutaneous fat tissue distrib...	ORPHA:79318
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Plague	Respiratory distress, Acute infectious pneumonia, Abnormality of the elbow	ORPHA:707
Hereditary Mixed Polyposis Syndrome		ORPHA:157794

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 Grem1

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 Grem1.

No publications found that use IMPC mice or data for Grem1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Grem1^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Grem1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Grem1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Grem1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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