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Gene: Col27a1 MGI:2672118

Gene Summary

Name:

collagen, type XXVII, alpha 1

Synonyms:

5730512J02Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
edema	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
blind uterus	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
edema	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal blood vessel morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
small spleen	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Col27a1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal craniofacial morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal facial morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal spleen morphology	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
hemorrhage	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal placenta morphology	Col27a1^em1(IMPC)Mbp	HET	E15.5	0.00
increased bone mineral density	Col27a1^em1(IMPC)Mbp	HET	Early adult	8.48×10^-06
cleft palate	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
pale liver	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta vasculature	Col27a1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged spleen	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Col27a1^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

Images

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Col27a1 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 Col27a1 (1 diseases)
Human diseases predicted to be associated with Col27a1 (1529 diseases)

The table below shows human diseases associated to Col27a1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Steel Syndrome		Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:615155

The table below shows human diseases predicted to be associated to Col27a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Lipedema	Edema	OMIM:614103
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab...	ORPHA:2204
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Achondrogenesis, Type Ib	Inguinal hernia, Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Short ribs,...	OMIM:600972
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond...	OMIM:256050
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Rickets of the l...	ORPHA:882
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Abnormal lung lobation, Mesomelia, Pulmonary h...	ORPHA:2631
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, Abnormal e...	ORPHA:93299
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnorma...	ORPHA:93298
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Hernia of the abdominal wall,...	ORPHA:1277
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Respiratory failure, Distal arthrogryposis, Talipes equinov...	OMIM:618011
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,...	OMIM:611490
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Micrognathia, Respiratory insufficiency due to muscle weakness, Hip dysplasia...	OMIM:611890
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Kniest Dysplasia	Respiratory distress, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartila...	OMIM:156550
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst	OMIM:109130
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Seckel Syndrome 4	Steep acetabular roof, Intrauterine growth retardation, 11 pairs of ribs, Retrognathia	OMIM:613676
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Umbilical hernia, Micrognathia	ORPHA:1918
Scarf Syndrome	Inguinal hernia, Diastasis recti, Craniosynostosis, Pectus carinatum, Joint hyperflexibility, Sho...	ORPHA:3134
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narr...	ORPHA:1423
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Delayed eruption of teeth, Micr...	ORPHA:166272
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death...	OMIM:618393
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Respiratory distress, Thoracic hypoplasia, Postaxial polydactyly, Microm...	OMIM:617895
Achondrogenesis	Inguinal hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Aplasi...	ORPHA:932
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha...	OMIM:184260
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien...	OMIM:313420
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Mandibular aplasia, Intrauterin...	ORPHA:1832
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co...	OMIM:602535
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi...	OMIM:311900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro...	OMIM:617468
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Proximal placement of thumb, Short sternum, Clinodactyly of the 5th ...	OMIM:620113
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Pulmonary cyst, Micrognathia, Pectus excavatum, Wide anterior fontanel, Umbilica...	OMIM:618272
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Donnai-Barrow Syndrome	Omphalocele, Congenital diaphragmatic hernia, Wide anterior fontanel, Short sternum, Umbilical he...	OMIM:222448
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic...	OMIM:600325
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Diastasis recti, Coronal craniosynostosis, Pectus carinatum...	OMIM:312830
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria, Recurrent fractures	ORPHA:417
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Prieto Syndrome	11 pairs of ribs, Inguinal hernia, Coxa valga, Osteoporosis, Talipes equinovarus, Radial deviatio...	OMIM:309610
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphysis	OMIM:600561
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Congenital diaphragmatic hernia, Missing ri...	ORPHA:1488
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr...	OMIM:614399
Orofaciodigital Syndrome Iii	Pectus excavatum, Postaxial hand polydactyly, Supernumerary tooth, Postaxial foot polydactyly, Sh...	OMIM:258850
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Coxa valga, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus, Su...	ORPHA:2958
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Osteopetrosis...	OMIM:620366
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten...	OMIM:619751
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios...	ORPHA:380
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Narrow chest, Mesomelia, Br...	OMIM:611263
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Micromelia, Micrognathia, Clinodact...	OMIM:122470
Momo Syndrome	Delayed eruption of teeth, Dental malocclusion, Femoral bowing, Large hands, Taurodontia, Short s...	ORPHA:2563
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Joint stiffness, Abnormal ti...	ORPHA:2496
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Arthralgia of the hip, Abnormality of ...	ORPHA:166002
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Inguinal hernia, Joint laxity, Overlapping toe, Diastasis recti, Pectus ex...	ORPHA:254528
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Pne...	ORPHA:3404
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Coxa valga, Av...	ORPHA:1899
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Inguinal hernia, Neonatal respiratory distress, Micrognathia, ...	OMIM:616266
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death...	OMIM:300717
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis...	ORPHA:628
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Short lo...	OMIM:618961
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Edema, Intrauterine growth retardation	OMIM:189800
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Momo Syndrome	Delayed eruption of teeth, Dental malocclusion, Large hands, Taurodontia, Short sternum	OMIM:157980
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Inguinal hernia, Toe syndactyly, Death in infancy, Elbow flexion con...	OMIM:616809
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mine...	OMIM:215140
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Sagittal...	ORPHA:2872
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Flexion contracture, Elbow flexion contracture, Hip dislocation, Hyperext...	ORPHA:75840
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly	OMIM:618786
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Tarp Syndrome	Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavat...	ORPHA:2886
Pontocerebellar Hypoplasia, Type 1C	Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Meckel Syndrome, Type 8	Ambiguous genitalia, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Kaposiform Lymphangiomatosis	Pancreatic cysts, Fractures of the long bones, Thrombocytopenia, Splenomegaly, Abnormality of the...	ORPHA:464329
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf...	OMIM:615633
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cong...	ORPHA:2311
Arthrogryposis, Distal, Type 1C	Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Rocker bottom foot, Elbow...	OMIM:619110
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femu...	OMIM:618291
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexibility, Abnormal pel...	ORPHA:1803
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Pectus carinatum, Radio...	ORPHA:171839
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Congeni...	ORPHA:77297
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Micrognathia, Retrognathia, Congenital contracture, Joint contracture of the 5th...	ORPHA:352490
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia, Arthrogryposis m...	OMIM:615834
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M...	ORPHA:1865
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Inguinal hernia, Mandibular prognathia, Joint hypermobility, ...	OMIM:618363
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb m...	ORPHA:1842
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Anauxetic Dysplasia 3	Recurrent respiratory infections, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobi...	OMIM:618853
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Umbilical hernia, Craniosynostosis, Micrognathia	ORPHA:1516
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Turnpenny-Fry Syndrome	Mandibular prognathia, Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow ch...	OMIM:618371
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thro...	OMIM:259700
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxi...	OMIM:175700
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Wide ant...	OMIM:263210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, Ab...	ORPHA:2759
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Pectus ex...	ORPHA:915
Orofaciodigital Syndrome Type 3	Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor...	ORPHA:2752
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Silver-Russell Syndrome Due To 11P15 Microduplication	Clinodactyly of the 5th finger, Umbilical hernia, Severe intrauterine growth retardation, Intraut...	ORPHA:231144
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Recurre...	ORPHA:284180
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Micrognathia, Short thumb, Hypoplasia of th...	OMIM:227270
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility, Umbilical hernia	ORPHA:1035
Sialidosis Type 2	Inguinal hernia, Dyspnea, Short thorax, Flexion contracture, Osteoporosis, Pectus carinatum, Umbi...	ORPHA:87876
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Respiratory insuff...	OMIM:618186
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Calcaneovalgus deformity, Knee flexion contracture, Absent distal int...	OMIM:108120
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron...	OMIM:614078
Weaver Syndrome	Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Micrognathia, Joint stif...	ORPHA:3447
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint...	ORPHA:137834
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, Dyspnea, Hypoplasia of the radius, Abnormal rib m...	ORPHA:3015
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata...	ORPHA:79301
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Leukopenia, Nephr...	OMIM:617303
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Thoracic hypoplasia, Brachydactyly	ORPHA:221054
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis, Umbi...	OMIM:613328
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Coxa valga, Micrognathia, Long fin...	OMIM:608149
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Cyst...	OMIM:200995
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Mandibular prognathia, Lipoatrophy, Wide anterior fontanel, ...	ORPHA:2963
Hyperparathyroidism, Transient Neonatal	Osteopenia, Recurrent fractures, Unilateral renal agenesis, Ovarian cyst, Subperiosteal bone form...	OMIM:618188
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Hip dislocation, Respiratory insufficiency, Respiratory failure, Abn...	ORPHA:370968
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Inguinal hernia, Spontaneous neonatal pneumothorax, Micrognathia, Wide ...	OMIM:225410
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Joint hyperflexibility, Shoulder dislocation, Umbilical hernia, Adducted thumb	ORPHA:2181
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation, Osteopetrosis	OMIM:618541
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Prea...	ORPHA:65759
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Osteogenesis Imperfecta, Type X	Respiratory distress, Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Hallux valgus, Inguinal hernia, Thoracic scoliosis, Osteopenia, Micrognathia, Ost...	OMIM:618000
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p...	OMIM:619057
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Respiratory insuffic...	OMIM:224410
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Advanced ossification of carpal bones, Short long bone, Small epiphyses...	OMIM:620269
Ehlers-Danlos Syndrome, Periodontal Type, 2	Atypical scarring of skin, Umbilical hernia, Inguinal hernia, Joint hypermobility	OMIM:617174
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Micrognathia, Pulmonary hypoplasia, Neonatal death, Retrognathia	OMIM:615524
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Ehlers-Danlos Syndrome, Classic Type, 1	Hyperextensibility of the finger joints, Inguinal hernia, Pectus excavatum, Osteoarthritis, Cigar...	OMIM:130000
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Osteoporosis, Nephrolithiasis, G...	OMIM:232200
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Supraumbilical raphe	OMIM:606893
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Carious teeth, Joint hyperflexibility, Clinodactyly of the 5th finger, Ma...	ORPHA:1390
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, T...	OMIM:617952
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Malar flattening, Wide distal femoral metaphysis...	OMIM:269150
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Be...	OMIM:616897
Coffin-Siris Syndrome 3	Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing...	OMIM:614608
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal...	ORPHA:70587
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
H Syndrome	Recurrent fractures, Abnormality of the kidney, Microcytic anemia, Osteolysis, Hepatosplenomegaly...	ORPHA:168569
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intra...	OMIM:620326
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre...	OMIM:276700
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Trach...	OMIM:245650
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Joint contr...	OMIM:618914
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture	OMIM:608540
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Joint stiffness, M...	ORPHA:584
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li...	ORPHA:177
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest, Respiratory failure	ORPHA:1861
Shprintzen-Goldberg Syndrome	Osteopenia, Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2462
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con...	ORPHA:171430
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Metaphyseal widening,...	OMIM:182212
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Atelectasis, Sh...	OMIM:269860
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Mosaic Variegated Aneuploidy Syndrome 1	Intrauterine growth retardation, Short sternum, Malar flattening, Micrognathia	OMIM:257300
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Tibial bowin...	ORPHA:96334
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Mucopolysaccharidosis, Type Vii	Diastasis recti, Spatulate ribs, Joint stiffness, Metatarsus adductus, Thoracolumbar kyphosis, Pe...	OMIM:253220
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial ha...	OMIM:241800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Joint Laxity, Short Stature, And Myopia	Inguinal hernia, Pectus carinatum, Talipes equinovarus, Umbilical hernia, Joint hypermobility	OMIM:617662
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Limited elbow extension, Short metatarsal, Small h...	OMIM:180870
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum,...	OMIM:312870
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,...	OMIM:277590
Cantu Syndrome	Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Broad first metatarsal, Osteoporosi...	OMIM:239850
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Inguinal hernia, Neonatal respiratory distress, Camptodactyly of finger, Micro...	ORPHA:2990
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph...	OMIM:219100
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo...	ORPHA:429
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Umbilical hernia, Inguinal hernia	ORPHA:1373
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short thorax, Respiratory insu...	ORPHA:2655
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Recurrent pneumonia, Short 5th finger, Acromesomelia, Umbilical hernia, Tracheobron...	ORPHA:500159
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of...	OMIM:271665
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Inguinal hernia, Micrognathia, Talipes equinovarus, Umbilical hernia	OMIM:613544
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology	ORPHA:95717
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur...	ORPHA:2590
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira...	ORPHA:436
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,...	ORPHA:2639
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Recurrent pneumonia, Clinodactyly of the 5th finger, Prominent fingertip p...	OMIM:615637
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irreg...	OMIM:612813
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis,...	OMIM:252500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac...	ORPHA:251004
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Death in infancy, Inguinal hernia, Neonatal respiratory distress, Rocker bottom...	OMIM:618947
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Abnormal thorax morphology, Temporomandibular joint ankylosis, Lateral...	OMIM:164900
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Osteopenia, Sandal gap, J...	OMIM:613177
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Aplasia/Hypoplasia...	ORPHA:3429
Coffin-Siris Syndrome 1	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Delayed eruption of teeth, Sanda...	OMIM:135900
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Smith-Kingsmore Syndrome	Rhizomelia, Diastasis recti, Short proximal phalanx of finger, Wide anterior fontanel, Umbilical ...	OMIM:616638
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal...	ORPHA:40
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Delayed eruption of teeth, Hypoplastic iliac wing, Pectus excavatum, Pulmonary lympha...	OMIM:235510
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, A...	ORPHA:2021
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Arthrogryposis multiplex congenita, Retrognathia, Rocker bottom foot	OMIM:619072
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Pseudoachondroplasia	Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Ost...	OMIM:177170
Joubert Syndrome 18	Joint laxity, Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polyda...	OMIM:614815
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure, Intrauterine...	ORPHA:1194
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Dental malocclusion, Reduced bone mineral density, Pectus carinatum, Abnor...	ORPHA:3079
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Cirrhosis	OMIM:602390
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Respiratory failure...	ORPHA:171433
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Short fir...	OMIM:613684
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Retrognathia,...	OMIM:615330
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical h...	ORPHA:226313
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Ck Syndrome	Micrognathia, Malar flattening, Retrognathia, Abnormal digit morphology, Joint hypermobility	OMIM:300831
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Limitation...	ORPHA:171719
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Facial hyperostosis,...	OMIM:176920
Peho-Like Syndrome	Retrognathia, Tapered finger	OMIM:617507
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Hurler-Scheie Syndrome	Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Micrognathia, Joint s...	OMIM:607015
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Congenital hip dislocation, Pectus excavatum, Hip dislocation, Talipes equinovar...	OMIM:219150
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp...	ORPHA:2092
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Sandestig-Stefanova Syndrome	Rocker bottom foot, Respiratory failure, Camptodactyly, Intrauterine growth retardation, Clinodac...	OMIM:618804
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Thin ribs, Neonatal death, Retrognathia, Joi...	OMIM:300219
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure	OMIM:604801
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in...	ORPHA:800
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Endove Syndrome, Limb-Brain Type	Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Umbilical hernia, Triangu...	OMIM:619218
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Cog7-Cdg	Micrognathia, Long fingers, Abnormal finger morphology, Retrognathia, Adducted thumb	ORPHA:79333
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Overlapping toe, Apnea, Flexion contracture, Elbow flexion contrac...	OMIM:617301
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Joint stiffness, Splenomegaly, Reduced bone min...	OMIM:620210
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Cra...	OMIM:251230
Gracile Bone Dysplasia	Asplenia, Micropenis, Decreased skull ossification, Hypoplastic spleen, Ascites	OMIM:602361
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Ab...	ORPHA:449280
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Drumstick terminal phalanges, Death in childhood, Umbilical hernia, Intrauterine growth retardati...	OMIM:612938
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Spinocerebellar Ataxia, Autosomal Recessive 31	Clinodactyly of the 5th finger, Retrognathia, Pectus excavatum, Death in childhood	OMIM:619422
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral b...	OMIM:616482
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Proteinuria, Chronic neutropenia, Osteoporosis, Hepatocellular adenoma,...	ORPHA:79259
Myopathy, Centronuclear, 5	Hip contracture, Retrognathia, Respiratory insufficiency, Micrognathia	OMIM:615959
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal...	OMIM:169400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Bell-sha...	OMIM:602557
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocat...	OMIM:618651
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Hernia, Joint hyperflexibility	ORPHA:75497
Pfapa Syndrome	Splenomegaly, Arthritis, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Pectus carinatum, Reduced bone ...	ORPHA:2911
12Q14 Microdeletion Syndrome	Ectopic kidney, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney	ORPHA:94063
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Umbilical hernia, Tetraamelia	OMIM:273390
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Flexion contracture	ORPHA:77260
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Short thorax, Limitation of joint mobility, Respiratory insufficiency,...	ORPHA:93274
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, U...	OMIM:252900
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi...	ORPHA:1901
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Short thorax, Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydac...	ORPHA:3218
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hy...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hy...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hy...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Reduced bone mineral density, Enlarged thorax, Short 5th metacarpal, Hy...	ORPHA:881
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly, Retrognathia	OMIM:619092
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Short foot, Clinodactyly of the 5th finger, Umbilical hernia, R...	OMIM:619758
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Wide anterior fontanel	OMIM:275100
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Crisponi/Cold-Induced Sweating Syndrome 1	Tapered finger, Micrognathia, Dyspnea, Carious teeth, Trismus, Elbow flexion contracture, Talipes...	OMIM:272430
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Genu valgum, Joint hyperflexibility, Hypoplasia of the zygomatic bone, Umb...	ORPHA:1778
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Apnea, Micromelia, Bowing of the legs, Cranio...	OMIM:241500
Ruvalcaba Syndrome	Inguinal hernia, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Small ...	ORPHA:3121
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Osteoglophonic Dysplasia	Respiratory distress, Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Becker Nevus Syndrome	Lipoatrophy, Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus carinatu...	ORPHA:64755
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Craniosynostosis, Abnorm...	ORPHA:93329
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicle...	OMIM:212112
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse...	ORPHA:93352
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicoronal synosto...	OMIM:616300
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Tracheomala...	ORPHA:1001
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth...	OMIM:604320
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Micrognathia, Abn...	ORPHA:2067
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Rin2 Syndrome	Increased susceptibility to fractures, Abnormal sternum morphology, Umbilical hernia, Joint hyper...	ORPHA:217335
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome,...	OMIM:269920
Microcephaly 8, Primary, Autosomal Recessive	Retrognathia	OMIM:614673
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, ...	ORPHA:1900
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flexion con...	OMIM:224690
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Pectus excavatum, Slender finger, Clinodactyly of the 5th finger, Umbilical hern...	ORPHA:329224
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H...	ORPHA:2249
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Rocker bottom foot, Pectus excavatum, Short 2nd toe, Hip dysplasia, Clin...	OMIM:612582
Acces Syndrome	Recurrent respiratory infections, Hip dislocation, Hip dysplasia, Split foot, Ectrodactyly, Clino...	OMIM:619959
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Arthrogryposis-like hand anomaly, Camptodactyly, Umbilical her...	ORPHA:369891
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Recurrent upper respiratory tract infections, Flexion contracture, Promine...	ORPHA:391372
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo...	OMIM:259720
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Dental malocclusion, Partial d...	OMIM:616331
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o...	ORPHA:1427
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Camptodactyly of finger, Abnormal morphology of ulna, Tarsal synostosis, Micro...	ORPHA:2633
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Micrognathia, Delayed ep...	OMIM:114290
6Q16 Microdeletion Syndrome	Abnormal thorax morphology, Retrognathia, Micrognathia, Tapered finger	ORPHA:171829
Hurler Syndrome	Recurrent respiratory infections, Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Jo...	OMIM:607014
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Hyperekplexia 1	Inguinal hernia, Apnea, Hip dislocation, Aspiration, Umbilical hernia	OMIM:149400
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney, Mediastinal lymphadenopathy, Rheumatoid arthritis	ORPHA:79128
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Sandal gap, Tracheobronchomalacia, Patellar ...	OMIM:616835
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Asthma, Recurrent pneumonia, Flexion contracture, Spl...	OMIM:309900
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyse...	OMIM:250420
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micromelia, Flexion contr...	OMIM:610015
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Wide anterior fontanel	OMIM:618240
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Proximal placement of thumb, Micrognathia, Hip dislocation,...	OMIM:314580
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Broad ribs, Narr...	ORPHA:1517
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Schaaf-Yang Syndrome	Mandibular prognathia, Rocker bottom foot, Tapered finger, Flexion contracture, Small hand, Short...	OMIM:615547
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Intellectual Developmental Disorder, Autosomal Dominant 48	Joint laxity, Recurrent pneumonia, Umbilical hernia, Tracheobronchomalacia, Intrauterine growth r...	OMIM:617751
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo...	ORPHA:2962
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Retrognathia	OMIM:619844
Macs Syndrome	Joint laxity, Micrognathia, Pectus excavatum, Osteoporosis, Bronchiectasis, Umbilical hernia, Joi...	OMIM:613075
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation	OMIM:614100
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c...	ORPHA:60025
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Micrognathia, Small hand, Short foot, Clinodactyly o...	OMIM:300882
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Craniosynostosis,...	ORPHA:2554
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci...	ORPHA:254534
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Mandibular prognathia, Rhizomelia, Abnormal respiratory system...	ORPHA:171866
Luo-Schoch-Yamamoto Syndrome	Short foot, Umbilical hernia, Small hand, Intrauterine growth retardation	OMIM:619460
Fg Syndrome Type 1	Finger syndactyly, Inguinal hernia, Broad toe, Progressive flexion contractures, Limited elbow ex...	ORPHA:93932
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Inguinal hernia, Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, ...	ORPHA:1292
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Reduced bone mineral density, Nephrotic syndrome, Ascites	ORPHA:834
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Chromosome 18Q Deletion Syndrome	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Overlapping toe,...	OMIM:601808
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contr...	ORPHA:505248
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Thoracic hypoplasia, Hypoplastic...	OMIM:611717
Arterial Tortuosity Syndrome	Joint laxity, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Pe...	OMIM:208050
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Joint laxity, Scapular winging, Neonatal respiratory distress, Monkey wrench f...	OMIM:618870
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Arterial Tortuosity Syndrome	Respiratory distress, Inguinal hernia, Femoral hernia, Arachnodactyly, Rocker bottom foot, Hiatus...	ORPHA:3342
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Supernumerary ribs, Retrognathia	ORPHA:163961
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Myasthenic Syndrome, Congenital, 19	Barrel-shaped chest, Micrognathia, Distal joint laxity, Respiratory insufficiency, Pectus carinat...	OMIM:616720
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Autosomal Recessive Robinow Syndrome	Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Synostosis of carpal bones, Finge...	ORPHA:1507
Hereditary Motor And Sensory Neuropathy, Type Iic	Down-sloping shoulders, Stridor, Hammertoe, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Mulchandani-Bhoj-Conlin Syndrome	Intrauterine growth retardation, Clinodactyly, Retrognathia, 2-3 toe syndactyly	OMIM:617352
Desbuquois Dysplasia 2	Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu varum, Joint ...	OMIM:615777
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Hallux valgus, Inguinal hernia, Widened atrophic scar, Arachnodactyly, Sandal gap...	ORPHA:536532
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology	ORPHA:95716
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p...	OMIM:266920
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Micrognathia, Pec...	ORPHA:496641
Mucolipidosis Type Ii	Hip contracture, Recurrent respiratory infections, Inguinal hernia, Respiratory failure requiring...	ORPHA:576
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Short toe, Flexion contracture, Pectus carinatum, Talipes equinovarus, Malar flatte...	ORPHA:98791
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Micrognathia, Flexion contracture, Death in childhood, Retrognathia, Camptoda...	OMIM:604273
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Heparan sulfate excretion in urine, De...	OMIM:252920
Craniofrontonasal Syndrome	Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern...	OMIM:304110
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Recurrent pneumonia, Flexion contracture,...	OMIM:215150
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Prominent fingertip pads, Retrognathia, Tapered finger	OMIM:615722
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Congenital Myopathy 2A, Typical, Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Arthrogryposis multiplex congenita, Retrognathi...	OMIM:161800
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Arthritis, Leukocytosis, Lymphadenopathy	OMIM:611762
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Wide anterior fontanel, Congenital diaphragmatic hernia	ORPHA:2143
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
9P13 Microdeletion Syndrome	Microretrognathia, Joint stiffness, Abnormality of cartilage of external ear, Clinodactyly of the...	ORPHA:324313
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Limitation of joint ...	ORPHA:108
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, 2-3...	OMIM:617164
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Amme Complex	Inguinal hernia, Sandal gap, Diastasis recti, Clinodactyly of the 2nd toe, Prominent fingertip pa...	OMIM:300194
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Image Syndrome	Metaphyseal dysplasia, Micromelia, Intrauterine growth retardation	ORPHA:85173
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h...	OMIM:171480
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Thoracic scoliosis, Scapular winging, Limb joint contractu...	OMIM:620369
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Tapered finger, Tracheomalacia, Umbilical hernia	ORPHA:261652
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure, Retrognathia	ORPHA:2707
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Limitation of joint mobility, Abnormality of the tonsils	ORPHA:93476
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Thoracic kyphoscoliosis, Reduced vital capacity, Restrictive ventilatory defect, Respi...	ORPHA:98913
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Intrauterine gr...	OMIM:609981
Coffin-Siris Syndrome 6	Micrognathia, Pectus excavatum, Clinodactyly, Retrognathia, Brachydactyly	OMIM:617808
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Lipodystrophy, Sandal gap, Micrognathia, Pectus excavatum, S...	OMIM:270450
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Thrombocytopenia, Spleno...	ORPHA:77261
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,...	OMIM:211350
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Achilles tendon contracture, Respiratory failure, Noctu...	OMIM:603689
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Oculodentodigital Dysplasia	Mandibular prognathia, Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Camptodac...	ORPHA:2710
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Abnormal epiphysis...	ORPHA:2107
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ...	ORPHA:163649
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t...	ORPHA:968
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Hereditary Hyperekplexia	Joint stiffness, Hiatus hernia, Hip dislocation, Hernia, Umbilical hernia	ORPHA:3197
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Transient Neonatal Diabetes Mellitus	Umbilical hernia, Intrauterine growth retardation	ORPHA:99886
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Retrognathia	OMIM:613670
Desmosterolosis	Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Osteopetr...	ORPHA:35107
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Loeys-Dietz Syndrome 4	Joint laxity, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Pneumothorax, Joint hyperflex...	OMIM:614816
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis	OMIM:616719
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Ambiguous genitalia, Penoscrotal hypospadias, Unilateral cryptor...	OMIM:618280
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Intellectual Developmental Disorder, Autosomal Dominant 43	Umbilical hernia, Hip dysplasia, Tapered finger	OMIM:616977
White Sponge Nevus 2	Edema	OMIM:615785
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ...	OMIM:610682
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Mandibular prognathia, Respiratory fa...	OMIM:620278
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig...	ORPHA:2780
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Familial Visceral Myopathy	Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:2604
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Long fingers, Respiratory insufficiency, Talipes equinovarus, ...	ORPHA:169186
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Developmental And Epileptic Encephalopathy 95	Joint laxity, Inguinal hernia, Multiple joint contractures, Short fourth metatarsal, Brachydactyl...	OMIM:618143
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Azoospermi...	OMIM:235200
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polyd...	OMIM:619879
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Inguinal hernia, Respiratory insufficiency, Death in childhood, Neonatal death...	OMIM:614052
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hyp...	OMIM:601186
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Retrognathia, Camptodactyly of finger, Micrognathia	ORPHA:2521
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Tibial bowing, Congenital b...	ORPHA:453510
Perlman Syndrome	Inguinal hernia, Retrognathia, Femoral hernia, Micrognathia	ORPHA:2849
Opsismodysplasia	Recurrent respiratory infections, Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia ...	OMIM:258480
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Hypoplastic facial bones, Overtubulated long bones, Shor...	OMIM:619793
Seckel Syndrome 5	11 pairs of ribs, Micrognathia, Short middle phalanx of finger, Clinodactyly of the 5th finger, E...	OMIM:613823
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Retrognathia, Talipes equinova...	OMIM:300280
C Syndrome	Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Mi...	OMIM:211750
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Short toe, Widely spaced toes, Umbilical hernia, Joint hypermobility	ORPHA:404443
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Catel-Manzke Syndrome	Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Micrognathia, Pectus...	OMIM:616145
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Stiff neck, Micrognathia, Femoral bowing, Short long bone, Broad...	OMIM:617022
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Vertebral fusion, Short thorax, Short long bone, Talipes equinovarus	OMIM:618845
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Intellectual Developmental Disorder, X-Linked 104	Retrognathia	OMIM:300983
Squalene Synthase Deficiency	Micrognathia, Elbow flexion contracture, 2-3 toe syndactyly, Knee flexion contracture, Slender lo...	OMIM:618156
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Micromelia, Micrognathia...	OMIM:617866
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Flexion contracture, Tapered finger	OMIM:616505
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Gaba-Transaminase Deficiency	Retrognathia, Death in childhood	OMIM:613163
Menkes Disease	Inguinal hernia, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures,...	ORPHA:565
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, Joint hypermobility, Respiratory insufficiency, Thin ribs	ORPHA:456328
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Pectus carinatum, Hernia, Decreased skull ossif...	ORPHA:955
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact...	OMIM:619143
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Mandibular prognathia, Microme...	ORPHA:1908
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation, Inguinal hernia, Death in infancy, Elbow contracture, Umbilical hernia, Intraute...	OMIM:620275
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Ankle flexion cont...	ORPHA:2020
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mandibular prognathia, Thickened ribs, Pneumonia, Craniosynostosis, Joi...	ORPHA:309282
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Radial club hand...	OMIM:617053
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Bicornuate ute...	ORPHA:79328
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Short 5th finger, Thoracic kyphosis, Hypoplasia of the capital femoral epi...	ORPHA:557003
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Overlapping toe, Down-sloping shoulders, Tapered finger, Flexion contracture, Talipes equinovarus...	OMIM:617452
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynost...	ORPHA:2095
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Joint laxity, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bif...	OMIM:613776
Stuve-Wiedemann Syndrome 1	Apnea, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short ...	OMIM:601559
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia	ORPHA:397596
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Hypogon...	ORPHA:2905
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Trisomy 20P	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Spina bifida, Micrognathia, Preaxial...	ORPHA:261318
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Mediastinal lymp...	ORPHA:91138
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Respiratory failure, Clinodactyly of t...	ORPHA:158687
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth	OMIM:619142
Diamond-Blackfan Anemia 6	Micrognathia, Short thumb, Triphalangeal thumb, Tracheomalacia, Retrognathia	OMIM:612561
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Taurodontia, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Thyroid Hemiagenesis	Umbilical hernia	ORPHA:95719
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect,...	OMIM:606612
Congenital Sialidosis Type 2	Respiratory tract infection, Umbilical hernia, Inguinal hernia, Polydactyly	ORPHA:93400
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia	ORPHA:2528
Verheij Syndrome	Branchial cyst, Joint laxity, Vertebral fusion, Hip dislocation, Short 5th finger, Intrauterine g...	OMIM:615583
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Umbilical hernia	ORPHA:2349
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac...	OMIM:607765
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Neonatal respiratory distress, Clinodactyly of the 2nd finger, Cone-shaped epiphysis,...	ORPHA:221139
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Micrognathia, Pectus excavatum, Meningocele, Joint hy...	ORPHA:2789
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Coxa vara, Narrow pelvis bone, Joint hyperflexibili...	ORPHA:2637
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,...	OMIM:614837
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S...	ORPHA:93316
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Glycosylphosphatidylinositol Biosynthesis Defect 11	Umbilical hernia, Inguinal hernia	OMIM:616025
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs, Vertebral f...	OMIM:139210
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Microgna...	ORPHA:94068
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Large hands, Broad thumb, Brachydactyly	ORPHA:1770
Mesomelic Dysplasia, Savarirayan Type	Abnormal thorax morphology, Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated ...	OMIM:605274
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Pectus excavatum, Asthma, Narrow chest, Clinodactyly of the 5th finger, Retrog...	OMIM:620237
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, Intrauterine growth retarda...	OMIM:613792
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia	OMIM:607598
3Mc Syndrome	Diastasis recti, Craniosynostosis, Hip dislocation, Limited pronation/supination of forearm, Radi...	ORPHA:293843
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Intrauterine growth retardation, Coronal craniosynostosis, Retrog...	ORPHA:163976
Meier-Gorlin Syndrome 4	Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Patellar aplasia, Slender long bo...	OMIM:613804
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ...	ORPHA:86822
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Umbilical hernia, Pulmonary arterial hypertension, Brachydactyly	OMIM:616028
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog...	ORPHA:85212
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Limb joint contracture, ...	ORPHA:505237
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Flexion contracture, Abnormal sternum morphology,...	ORPHA:314588
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Premature osteoarthritis, 2-3 toe syn...	OMIM:611962
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Opitz-Kaveggia Syndrome	Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Micrognathia, Wide anteri...	OMIM:305450
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint laxity, Inguinal hernia, Arachnodactyly, Hiatus hernia, Generalized joint laxity, Atrophic ...	OMIM:130080
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Micrognathia, Tapered finger, Talipes equinovarus, Short palm, Umbilical hernia, Broad...	OMIM:614501
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Micromelia, Coxa val...	ORPHA:3107
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ...	OMIM:165590
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop...	ORPHA:319171
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Tibial bowing, Broad ribs, Wide...	ORPHA:798
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:464
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Abnormal rib morphology, Retrognathia, Short foot, Spina bifida occulta, ...	ORPHA:488434
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Lipoatrophy, Recurrent fractures, Micrognathia, Hypopla...	OMIM:601812
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas...	ORPHA:116
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
15Q Overgrowth Syndrome	Microretrognathia, Mandibular prognathia, Contracture of the proximal interphalangeal joint of th...	ORPHA:314585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Inguinal hernia	ORPHA:2196
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract infections, Recurr...	OMIM:619769
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Abnormal metatarsal morphology, Pectus excavatum, Short thorax, Rhizo-meso-acro...	ORPHA:163654
Basilicata-Akhtar Syndrome	Short foot, Short palm, Retrognathia, Camptodactyly, Adducted thumb	OMIM:301032
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Hypogonadotropic hyp...	ORPHA:35687
Gm1 Gangliosidosis	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger...	ORPHA:354
Congenital Varicella Syndrome	Atypical scarring of skin, Intrauterine growth retardation, Micromelia	ORPHA:291
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Hypoplasia of ...	ORPHA:1101
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Micrognathia, Pectus excavatum, Meningocele, Sclerosis of skul...	OMIM:130720
Immunodeficiency 49	Umbilical hernia, Pulmonary artery stenosis, Natal tooth, Micrognathia	OMIM:617237
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Reduced intraabdominal adipose tissue, ...	ORPHA:363400
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Inguinal hernia, Abnormal clavicle morphology, Craniofacial h...	ORPHA:581
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Increased connective tissue, Atelect...	ORPHA:258
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Joint contracture, Limb undergrowth, Intrauterine growth retardation...	OMIM:618005
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Retrognathia, Joint hypermobility	OMIM:619595
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Wide anterior fontanel	ORPHA:95715
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Flexion contracture, Limb undergrowth, Intrauterine growth retarda...	ORPHA:79243
Silver-Russell Syndrome 3	Syndactyly, Elbow contracture, Small hand, Clinodactyly of the 5th finger, Retrognathia	OMIM:616489
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Adnp Syndrome	Respiratory distress, Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morph...	ORPHA:404448
Distal Deletion 19P	Long toe, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Joint hyperflexibility, Umbi...	ORPHA:96129
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Block vertebrae, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe...	OMIM:306955
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Joint stiffness, Osteoporosis, Ovarian neoplasm, ...	ORPHA:902
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density	ORPHA:36913
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Joint laxity, Syndactyly, Arachnodac...	OMIM:610168
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent ...	ORPHA:355
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Toe syndactyly, Bilateral camptodactyly, Talipes equinovarus, Umbilical hernia, Lon...	OMIM:619234
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Short me...	OMIM:608328
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Missing r...	ORPHA:97360
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Mandibular prognathia, Dup...	OMIM:200990
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Clinodactyly ...	ORPHA:373
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Respiratory failure requiring assisted ventilation, Flexion contracture, Retrognathia	OMIM:619026
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Pneumonia, Increased connective tissue, Flexion c...	ORPHA:98905
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy	ORPHA:85414
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Death in infancy, Abnormal dental enamel morphology, Osteoma...	ORPHA:534
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Met...	OMIM:271510
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Umbilical hernia, Dental malocclusion, Malar flattening, Micrognathia	ORPHA:85321
Braddock-Carey Syndrome 2	Clinodactyly, Retrognathia	OMIM:619981
Lambotte Syndrome	Preaxial foot polydactyly, Retrognathia, Intrauterine growth retardation	OMIM:245552
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm, Intrauterine growth retardation, R...	ORPHA:73246
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna	ORPHA:2491
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, ...	OMIM:617925
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Retrognathia, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni...	OMIM:620249
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Syndactyly, Death in infancy, Mandibular prognathia, Cranios...	OMIM:612289
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy...	OMIM:618454
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Malar flattening, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Broad ribs, Talipe...	OMIM:301066
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Metatarsus adductus, Pectus excavatum, Recurrent upper respiratory tract infectio...	OMIM:612513
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, ...	ORPHA:217346
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Icf Syndrome	Recurrent respiratory infections, Umbilical hernia, Micrognathia	ORPHA:2268
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Allergic rhinitis, Pectus excavatum, Asthma, 2-3 toe syndactyly, K...	OMIM:618162
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis	OMIM:614069
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, Limitation of j...	ORPHA:47612
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Orofaciodigital Syndrome Xvi	Inguinal hernia, Apnea, Postaxial hand polydactyly, Postaxial foot polydactyly, Retrognathia	OMIM:617563
20Q11.2 Microduplication Syndrome	Inguinal hernia, Pectus excavatum, Pectus carinatum, Short foot, Severe intrauterine growth retar...	ORPHA:363659
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Micrognathia, Absent frontal sinuses, Osteoporosis, De...	OMIM:102500
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Recurrent respiratory infections, Umbilical hernia, Diastasis recti, Joint hypermobility	OMIM:616579
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Inguinal hernia, Overlapping toe, Recurrent pneumonia, ...	ORPHA:464738
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Tapered finger, Pectus excavatum, Micrognathia, 2-3 toe syndactyly,...	OMIM:617061
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Vacterl With Hydrocephalus	Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Micrognathia, Hypoplasia of...	ORPHA:3412
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L...	OMIM:616914
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Pulmonary artery atresia, Umbilical hernia, Clinodactyly, Intraute...	OMIM:618164
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Arthritis, Nephrotic syndrome, Renal amyloid...	ORPHA:575
Wrinkly Skin Syndrome	Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo...	ORPHA:2834
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Pr...	OMIM:618529
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Hip dysplasia, Intrauterine growth retardation, Enamel h...	OMIM:614576
Meester-Loeys Syndrome	Arachnodactyly, Abnormal sternum morphology, Broad distal phalanx of finger, Camptodactyly, Pulmo...	OMIM:300989
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, ...	OMIM:615636
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia...	ORPHA:1855
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Arachnodactyly, Ca...	ORPHA:284984
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly...	OMIM:301056
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Overlapping toe, Micrognathia, Carious teet...	OMIM:613026
Raine Syndrome	Mandibular prognathia, Death in infancy, Bowing of the long bones, Increased bone mineral density...	OMIM:259775
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym...	ORPHA:1655
Distal Deletion 3P	Inguinal hernia, Micrognathia, Postaxial hand polydactyly, Clinodactyly of the 5th finger, Umbili...	ORPHA:1620
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossi...	OMIM:271640
Wrinkly Skin Syndrome	Microretrognathia, Osteopenia, Inguinal hernia, Congenital hip dislocation, Scapular winging, Del...	OMIM:278250
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Prominent fingertip pads, Laryngotracheomalacia, Retrognathia, Micrognathia	OMIM:616875
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Alg1-Cdg	Respiratory failure, Limitation of joint mobility	ORPHA:79327
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis m...	OMIM:608013
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Recurrent pneumonia, 2-3 toe syndactyly, Pectus carinatum, Pulmonary arterial hy...	OMIM:616449
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Coxa valga, Tapered finger, Absent frontal sinuses, Talipes equinovarus, R...	OMIM:301040
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Overlapping toe, Scarring, Recurrent pneumonia, Limb undergrowth, Umbilica...	ORPHA:99843
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Periostitis, Osteolysis, Fus...	OMIM:612852
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno...	OMIM:216360
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Dyspnea, Wide anterior fontanel, Cardiorespiratory arrest, Restrictive ventilat...	ORPHA:26791
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec...	OMIM:620296
Muscular Dystrophy, Duchenne Type	Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F...	OMIM:310200
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Hyp...	ORPHA:2409
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Bohring-Opitz Syndrome	Syndactyly, Neonatal respiratory distress, Overlapping toe, Tapered finger, Micrognathia, Mesomel...	OMIM:605039
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Syndactyly	OMIM:614520
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Cranial hyperostosis, Renal hypoplasia	OMIM:612918
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm, Intrauterine growth retardation	ORPHA:238750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Inguinal hernia, Sandal gap, Camptodactyly of finger, Tapered f...	ORPHA:261349
Down Syndrome	Joint laxity, Sandal gap, Clinodactyly of the 5th finger, Umbilical hernia, Brachydactyly	ORPHA:870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Persistence of primary teeth, Retrognathia, Micrognathia	OMIM:618342
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Thoracic scoliosis, Recurrent fractures, Hand clenching, Overlapping fingers, Re...	OMIM:606056
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Anencephaly, Retrognathia	ORPHA:2189
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia	OMIM:617915
Fanconi Renotubular Syndrome 5	Genu valgum, Hypophosphatemic rickets, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenoc...	OMIM:618913
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Micrognathia, Pectus exc...	ORPHA:536545
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Clinodactyly of the 5th finger, Aspiration, Intr...	OMIM:300855
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, External genital hypoplas...	ORPHA:2658
Monosomy 9Q22.3	Delayed eruption of teeth, Pectus excavatum, Abnormal rib morphology, Joint hyperflexibility, Pol...	ORPHA:77301
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t...	ORPHA:1318
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand polydactyl...	ORPHA:2166
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Peho Syndrome	Retrognathia, Tapered finger	OMIM:260565
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Coxa valga, Long fingers, Flexion contracture, Flared metaphysis, Large...	OMIM:617561
Nicolaides-Baraitser Syndrome	Long toe, Recurrent respiratory infections, Inguinal hernia, Short metacarpal, Hallux valgus, San...	OMIM:601358
Keutel Syndrome	Sinusitis, Calcification of the auricular cartilage, Recurrent bronchitis, Short hallux, Miscarri...	OMIM:245150
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Camp...	ORPHA:500095
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Mucopolysacchariduria	ORPHA:93474
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Stankiewicz-Isidor Syndrome	Micrognathia, Absent thumb, Short thumb, 2-3 toe syndactyly, Retrognathia	OMIM:617516
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint laxity, Arachnodactyly, Scarring, Diastasis recti, Hiatus hernia, Pectus...	OMIM:601776
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, Shor...	ORPHA:2751
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Cleft palate, Bi...	OMIM:607361
Familial Tumoral Calcinosis	Splenomegaly, Hyperostosis, Nephrocalcinosis, Hepatomegaly	ORPHA:53715
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Hypoplasia of teeth, Thoracic kyphosis, Retrognathia	OMIM:620250
Pseudo-Torch Syndrome 1	Microretrognathia, Umbilical hernia	OMIM:251290
Bloom Syndrome	Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Adipose tissue loss, Chronic pu...	ORPHA:125
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Rhizomelia, Broad femoral neck, Micrognathia, Squared iliac bones...	OMIM:611209
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Abnormal fibula...	ORPHA:1812
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Tracheobronchomalacia, Short long bone, ...	OMIM:619184
Chromosome 9P Deletion Syndrome	Omphalocele, Long toe, Inguinal hernia, Sandal gap, Hallux varus, Tapered finger, Micrognathia, M...	OMIM:158170
Mucopolysaccharidosis Type 2, Severe Form	Inguinal hernia, Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infec...	ORPHA:217085
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Pectus excavatum, Umbilical hernia, Congenital hip dislocation, Syndactyly	OMIM:104350
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Mandibular prognathia, Arachnodactyly, Coxa valga, Metaphyseal widening...	OMIM:620083
Developmental And Epileptic Encephalopathy 89	Omphalocele, Microretrognathia, Flexion contracture, Narrow chest, Talipes equinovarus, Death in ...	OMIM:619124
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Cox...	OMIM:212066
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Arthritis, Cirrhosis, Acute he...	ORPHA:905
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Dense calvaria	OMIM:252930
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Aplasia...	ORPHA:289
Mucopolysaccharidosis Type 2, Attenuated Form	Inguinal hernia, Thickened ribs, Camptodactyly of finger, Recurrent upper respiratory tract infec...	ORPHA:217093
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Inguinal hernia, Ivory epiphyses of the distal phalanges of the h...	OMIM:136140
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Umbilical hernia, Inguinal hernia, Hypoplasia of the maxilla	OMIM:601499
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Thyroid Dyshormonogenesis 1	Umbilical hernia	OMIM:274400
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Tapered finger, Camptodactyly, Clinodactyly, Retrognathia	OMIM:619576
Xylt1-Cdg	Joint laxity, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles...	ORPHA:370930
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Gapo Syndrome	Micrognathia, Wide anterior fontanel, Bell-shaped thorax, Eruption failure, Umbilical hernia, Joi...	OMIM:230740
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Neonatal respiratory distress, Micrognathia, Umbilical hernia, Abdominal wall defec...	ORPHA:96191
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Go...	OMIM:154230
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Micrognathia, Clavicular pseudarthrosis, Short thorax, Short f...	OMIM:156200
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Broad finger, Retrognathia, Short phalanx of finger	OMIM:300845
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology	ORPHA:90673
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Houge-Janssens Syndrome 3	Umbilical hernia, Inguinal hernia	OMIM:618354
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Inguinal hernia, Broad 2nd toe, Pectus excavatum, Pulmonary artery ste...	OMIM:280000
Dpm1-Cdg	Sandal gap, Micrognathia, Knee flexion contracture, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Arthro...	OMIM:616258
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Diastasis recti, Pectus excavatum, Asthma, Os...	ORPHA:488632
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Umbilical hernia, Inguinal hernia, Intrauterine growth retardation, Adducted thumb	ORPHA:79351
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Hypospadias, Camptodactyly of finger, Tarsal synostosis, Hydronep...	ORPHA:90652
Okur-Chung Neurodevelopmental Syndrome	Inguinal hernia, Broad hallux, Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia, Jo...	OMIM:617062
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Inguinal hernia, Micrognathia	ORPHA:2505
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Prominent fingertip pads, Laryngotracheomalacia, Retrognathia, Micrognathia	ORPHA:480898
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Arachnodactyly, Abnormal dental enamel morphology, Spina bi...	ORPHA:567
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cranios...	ORPHA:2745
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger...	ORPHA:435638
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Stüve-Wiedemann Syndrome	Respiratory distress, Osteopenia, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K...	ORPHA:3206
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Spastic Paraplegia 23, Autosomal Recessive	Scapular winging, Retrognathia, Micrognathia	OMIM:270750
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Micronodular cirrhosis, Splen...	OMIM:606003
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Abnormal dental enamel morphology, Mis...	ORPHA:3310
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Thoracolumbar kyphoscoliosis, Craniosyno...	ORPHA:1299
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Bartsocas-Papas Syndrome 1	Omphalocele, Syndactyly, Inguinal hernia, Short metacarpal, Hypoplastic scapulae, Absent thumb, A...	OMIM:263650
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Micrognathia, Neonatal asphyxia, Adducted thumb, Respiratory insufficiency, Ove...	OMIM:608779
Carpenter Syndrome 2	Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Cutaneous finger syn...	OMIM:614976
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen...	OMIM:610199
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto...	OMIM:230800
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Orofacial Cleft 13	Malar flattening, Retrognathia, Micrognathia	OMIM:613857
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Delayed erupti...	OMIM:619269
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici...	OMIM:618278
Cat Eye Syndrome	Absent radius, Umbilical hernia, Total anomalous pulmonary venous return, Micrognathia	OMIM:115470
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, A...	ORPHA:829
Dent Disease 2	Umbilical hernia	OMIM:300555
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pectus excavatum, Tachypnea, Rickets, Abnormal pulmona...	OMIM:613658
Hypertrichosis Cubiti	Joint hyperflexibility, Rhizomelia, Micromelia	ORPHA:2220
Pallister-Hall Syndrome	Abnormal lung lobation, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Resp...	ORPHA:672
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Tapered toe, Tapered finger, Asthma, Rib fusion, Clinodactyly of the 5th finger,...	ORPHA:544488
Tatton-Brown-Rahman Syndrome	Umbilical hernia, Sagittal craniosynostosis	OMIM:615879
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Inguinal hernia, Scapular winging, Arachnodactyly, Hiatus he...	OMIM:615582
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Joint hypermobility, Tapered finge...	OMIM:616007
Shashi-Pena Syndrome	Short metacarpal, Osteoporosis, Cervical C2/C3 vertebral fusion, Retrognathia, Intrauterine growt...	OMIM:617190
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Hypoplasia of the zygomatic bone, Umbilical hernia, Malar...	ORPHA:1555
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Hydronephrosis,...	ORPHA:2237
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short...	OMIM:600092
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, Joint laxity,...	OMIM:613795
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,...	ORPHA:94089
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia	OMIM:615706
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon...	ORPHA:79255
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Congenital contracture, Retrognathia, Micrognathia, Brachydactyly	OMIM:620156
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp...	ORPHA:432
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Arachnodactyly, Pneumothorax, Abnormal sternum morphology, Paroxysmal dyspnea, A...	ORPHA:91387
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Micrognathia, Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinova...	OMIM:618343
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell count, Hepatitis, Lymp...	ORPHA:158061
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Spina bifida, Micrognathia, Micromelia, Trismus, Flexion contracture, O...	ORPHA:2671
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice...	ORPHA:2137
Costello Syndrome	Barrel-shaped chest, Hyperextensibility of the finger joints, Limited elbow movement, Micrognathi...	OMIM:218040
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia	OMIM:615979
Marfan Syndrome	Osteopenia, Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Arachnodactyly, Prot...	ORPHA:558
Velocardiofacial Syndrome	Inguinal hernia, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Umbilical her...	OMIM:192430
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Overlapping fingers, Retrognath...	ORPHA:79330
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno...	ORPHA:264580
Brittle Cornea Syndrome 2	Umbilical hernia, Inguinal hernia, Recurrent fractures, Joint hypermobility	OMIM:614170
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Retrognathia	OMIM:619556
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metaphysis, Acetabular...	OMIM:616462
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Poikiloderma With Neutropenia	Joint laxity, Micrognathia, Joint stiffness, Recurrent bronchopulmonary infections, Carious teeth...	OMIM:604173
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Micrognathia, Pectus exc...	OMIM:613610
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Sudden episodic ...	ORPHA:466722
8P Inverted Duplication/Deletion Syndrome	Micrognathia, Pectus excavatum, Long fingers, Hip dislocation, Abnormality of dental eruption, Co...	ORPHA:96092
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Peters-Plus Syndrome	Proximal placement of thumb, Micrognathia, Limited elbow movement, Hypoplasia of the maxilla, Sho...	OMIM:261540
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Micromelia, Adducted thumb	ORPHA:50810
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Mucopolysaccharidosis Type 2	Inguinal hernia, Recurrent upper respiratory tract infections, Limitation of joint mobility, Uppe...	ORPHA:580
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Polycystic ovaries, Renal tubul...	ORPHA:79240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Marfan Syndrome	Reduced subcutaneous adipose tissue, Arachnodactyly, Protrusio acetabuli, Equinus calcaneus, Inci...	OMIM:154700
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Spina bifida, Micrognathia, Micromelia, Limitation o...	ORPHA:99776
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Finger syndactyly, Spina bifi...	OMIM:256520
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Radio-Tartaglia Syndrome	Brachydactyly, Retrognathia, Micrognathia, Tapered finger	OMIM:619312
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ...	ORPHA:93
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Aplasia/Hypoplasia of the radius, Intrauterine growth re...	ORPHA:1765
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Retrognathia, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta	OMIM:619227
Kinsship Syndrome	Osteopenia, Death in infancy, Mandibular prognathia, Coxa valga, Micrognathia, Hip dislocation, F...	OMIM:619297
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia	OMIM:618402
Cog5-Cdg	Camptodactyly of finger, Retrognathia, Genu valgum, Finger clinodactyly, Intrauterine growth reta...	ORPHA:263487
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent urinary tract infections, Cryptorchidism, Enuresis nocturna, Enlarged kidney	OMIM:615873
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Micromelia, Microgn...	ORPHA:2753
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Aplastic clavicle, Postaxial polydactyly, Micromelia, Preaxial p...	OMIM:616546
Isolated Thyroid-Stimulating Hormone Deficiency	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology	ORPHA:90674
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Short ...	OMIM:135500
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Micrognathia, Tracheomalacia, Malar flattening, Retrognathia	OMIM:620155
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short fifth metatarsal, Overlapping toe, Cl...	ORPHA:264450
Glycogen Storage Disease Of Heart, Lethal Congenital	Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Multiple Myeloma	Osteopenia, Splenomegaly, Nephropathy, Lymphadenopathy, Abnormality of the bladder, Nephrotic syn...	ORPHA:29073
Opitz Gbbb Syndrome	Umbilical hernia, Inguinal hernia, Wide anterior fontanel, Aspiration	OMIM:300000
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Micrognathia, Carious te...	ORPHA:177907
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Tapered finger, Trismus, Flexion contracture, Respiratory insufficiency, Talipes eq...	OMIM:254940
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Thrombocytopenia, Enlarged tonsils, Proximal ren...	ORPHA:2785
Pontocerebellar Hypoplasia, Type 1F	Retrognathia	OMIM:619304
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Hypoglossia-Hypodactylia	Adactyly, Split hand, Retrognathia, Micrognathia	OMIM:103300
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Recurrent fractures, Polyuria, Splenomegaly, Hypercalciuria, Ami...	OMIM:239200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hypotonia-Cystinuria Syndrome	Retrognathia	ORPHA:163690
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Micromelia,...	ORPHA:508488
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat...	ORPHA:93315
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Classical Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Abnormality of the temporomandibular joint, Phalangeal dislocation, ...	ORPHA:287
Bamforth-Lazarus Syndrome	Retrognathia	ORPHA:1226
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Pectus excavatum, Short toe, Advanced eruption of teeth, Clinodac...	ORPHA:1519
Baraitser-Winter Syndrome 1	Duplication of phalanx of hallux, Retrognathia	OMIM:243310
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Hip dysplasia, Limb undergrowth, Severe intrauterine growth retardati...	ORPHA:319675
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, 2-3 toe syndactyly, Joint contracture of the 5th finger, Prominent fingertip pads, ...	OMIM:620098
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Joint stiffness, Mediastinal lymphadenopathy, Splenomegaly, Osteo...	ORPHA:809
Bainbridge-Ropers Syndrome	Death in infancy, Ulnar deviation of the hand, Arachnodactyly, Micrognathia, Contracture of the p...	OMIM:615485
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Schisis Association	Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Micromelia, Anencephaly	ORPHA:63862
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Retrognathia	OMIM:611719
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatos...	ORPHA:99646
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Micrognathia, Pectus excavatum, Limitation of joint mobi...	ORPHA:97297
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Joint hypermobility, Micrognathia	OMIM:617101
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Fused cervical vertebrae, Aplasia of the uterus, Axi...	ORPHA:3320
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce...	OMIM:219000
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Birt-Hogg-Dubé Syndrome	Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Carious teeth, Dental malocclusion, Camptodactyly, Retrognathia	ORPHA:363444
Juvenile Sialidosis Type 2	Umbilical hernia, Inguinal hernia	ORPHA:93399
Rubinstein-Taybi Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic i...	OMIM:180849
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ...	ORPHA:89936
Hennekam Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Finger syndactyly, Camptodactyly of ...	ORPHA:2136
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Micrognathia, Flexion contracture, Elbow flexion contracture, ...	OMIM:300868
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Multiple prenatal fractures, Asymmetry of the thorax, Narrow chest, Intrau...	OMIM:618644
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Peters Plus Syndrome	Inguinal hernia, Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Spina bifida oc...	ORPHA:709
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Renal insufficiency, Proteinuri...	ORPHA:699
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Martin-Probst Syndrome	Umbilical hernia, Dental malocclusion, Malar flattening, Micrognathia	OMIM:300519
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Ankylosis, Wide ante...	OMIM:275210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, E...	ORPHA:31204
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ...	ORPHA:667
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Limb joint contracture	OMIM:620327
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Carious teeth, Postaxial hand polydactyly, Po...	OMIM:620107
Tolchin-Le Caignec Syndrome	Arachnodactyly, Diastasis recti, Micrognathia, Clinodactyly of the 5th finger, Umbilical hernia	OMIM:618971
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Pectus excavatum, Recurrent pneumonia, Recurrent aspiration pneumonia, Retrognathia	OMIM:300472
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid...	ORPHA:322
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Neonatal respiratory distress, Diastasis recti, Micrognathia, Pulmonary artery steno...	OMIM:265380
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Camptodactyly of finger, Cardiomegaly, Retroperiton...	OMIM:602782
Viss Syndrome	Micrognathia, Generalized joint laxity, Pectus carinatum, Emphysema, Long toe, Microretrognathia,...	OMIM:619472
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Fused cervical vertebrae, Narrow chest, I...	ORPHA:1724
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Pectus excavatum, Wide a...	OMIM:249420
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Thrombocytopenia, Splenomegaly, Flexion contracture, Lymphadenopathy, Arthritis, Ly...	OMIM:617591
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Pathol...	OMIM:263700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Micropenis, Patchy osteosclerosis	OMIM:241410
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Micrognat...	ORPHA:83617
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Neonatal Marfan Syndrome	Long toe, Neonatal respiratory distress, Arachnodactyly, Lipoatrophy, Micrognathia, Long fingers,...	ORPHA:284979
Baraitser-Winter Syndrome 2	Retrognathia	OMIM:614583
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,...	ORPHA:555874
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Hypoplastic vertebral bodies, Limb undergrowth, Thoracolumbar kyphosis	OMIM:230600
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Pneumothorax, Hip dislocation, Hip dysplasi...	OMIM:617403
Cardiac Diverticulum	Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Pulmonary artery stenosis, Parti...	ORPHA:1686
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosi...	OMIM:617913
Menke-Hennekam Syndrome 1	Inguinal hernia, Broad hallux, Overlapping toe, Sandal gap, Micrognathia, Recurrent upper respira...	OMIM:618332
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos...	ORPHA:79404
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Hypergonadotropic hypogonadism, Reduced bone mineral density, Hyp...	ORPHA:79443
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Micrognathia, Dental malocclusion, Mesomelia, Camptodactyly, Pulmonary a...	OMIM:616894
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Retrognathia, Pulmonary hypoplasia	OMIM:191830
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki...	OMIM:249100
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasia of th...	ORPHA:920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Pectus excavatum, Prominent crus of helix, Elbow flexion contracture, Genu valgu...	OMIM:619194
Chromosome 13Q14 Deletion Syndrome	Inguinal hernia, Overlapping toe, Micrognathia, Hip dislocation, Clinodactyly of the 5th finger, ...	OMIM:613884
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Atypical Werner Syndrome	Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Limitation of joint mobil...	ORPHA:79474
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Retrognathia	OMIM:301091
Fraser Syndrome	Encephalocele, Omphalocele, Finger syndactyly, Toe syndactyly, Death in infancy, Myelomeningocele...	ORPHA:2052
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Cystic l...	OMIM:612284
Williams Syndrome	Osteopenia, Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalc...	ORPHA:904
Desmosterolosis	Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous genitalia, male, Arthrogryposi...	OMIM:602398
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Increased bone mineral density, Hypergonadotropic hypogonadism, Low urinary...	ORPHA:79444
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Hypoplasia of the zygomatic bone, Brachydactyly	OMIM:614800
Camptodactyly Syndrome, Guadalajara, Type Iii	Spina bifida occulta, Absent phalangeal crease, Retrognathia, Camptodactyly, Malar flattening, Jo...	OMIM:611929
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Art...	OMIM:260920
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233710
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Sandal gap, Long fingers, Asthma, Recurrent pneumonia, Cutan...	OMIM:620330
Wilson Disease	Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Osteomalacia, A...	OMIM:277900
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Retrognathia, Apnea, Abnormal pulmonary interstitial morphology	OMIM:617050
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane...	OMIM:300166
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Pectus excavatum, Split hand, Hammertoe, Talipes equinovarus, Retrognat...	OMIM:261515
Familial Mediterranean Fever	Proteinuria, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lymphadenopathy, Nephrocalcinos...	ORPHA:342
Diets-Jongmans Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hip dysplasia, Umbilical hernia, Joint hypermob...	OMIM:618846
Boutonneuse Fever	Respiratory failure	ORPHA:83313
7Q11.23 Microduplication Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum, Long fingers, C...	ORPHA:96121
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificati...	ORPHA:93271
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hypoplasia of ...	ORPHA:500150
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Pectus excavatum, Joi...	ORPHA:2461
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ...	ORPHA:861
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In...	OMIM:610505
Sanjad-Sakati Syndrome	Cryptorchidism, Hypoplasia of penis, Patchy osteosclerosis	ORPHA:2323
Trichothiodystrophy 8, Nonphotosensitive	Retrognathia	OMIM:619691
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, Apl...	OMIM:617088
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:233690
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Abnormal epiphysis morphology...	ORPHA:226307
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, C...	OMIM:601803
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Leigh Syndrome	Intrauterine growth retardation, Respiratory failure, Multiple joint contractures, Abnormal patte...	ORPHA:506
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Splenomegaly, Labial hypertrophy, ...	OMIM:608594
Geleophysic Dysplasia 1	Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, Hypoplasia of...	OMIM:231050
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal...	OMIM:303600
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Wide anterior fontanel, Pneumothorax, Recurrent pneumonia, Hip dis...	ORPHA:90349
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Broad hallux, Arachnodactyly, Pectus excavatum, Dental malocclusion, Short finger, ...	OMIM:601552
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, Stage 5 chronic ...	OMIM:222700
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Partial anomal...	OMIM:301044
Van Esch-O'Driscoll Syndrome	Pulmonary artery stenosis, Retrognathia, Short middle phalanx of finger, Clinodactyly of the 5th ...	OMIM:301030
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Micrognathia, Abnormal lung lobatio...	ORPHA:818
Nablus Mask-Like Facial Syndrome	Sandal gap, Short hallux, Tapered finger, Craniosynostosis, Hypoplasia of the maxilla, Retrognath...	OMIM:608156
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Sagittal craniosynostosis, ...	OMIM:616580
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Short Stature, Microcephaly, And Endocrine Dysfunction	Clinodactyly, Intrauterine growth retardation, Inguinal hernia, Limb undergrowth	OMIM:616541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Death in childhood, Retrognathia, Adducted thumb	OMIM:614643
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Proximal placement of thumb, Talipes equinovarus, Clinodactyly of the 5th finger, Malar flattenin...	OMIM:604314
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Micrognathia, Atelectasis, Asthma, Recurrent pneumonia, Chronic ...	OMIM:188400
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Urethral atresia, Aplasia of the va...	OMIM:271520
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Flexion contracture,...	OMIM:619479
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Retrognathia	ORPHA:280679
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Cervical ribs, ...	ORPHA:2255
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Abnorma...	OMIM:609192
Fraser Syndrome 2	Respiratory failure, Short thorax, Cutaneous syndactyly	OMIM:617666
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Elevated hemoglobin A1c, Splenomeg...	OMIM:269700
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Pectus excavatum, Chylothorax, Finger joint hypermobility, Retrognathia, Joint hype...	OMIM:613563
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Inguinal hernia, Postaxial hand polydactyly, Recurrent upper respi...	OMIM:308205
Trisomy 10P	Thumb contracture, Micrognathia, Short toe, Talipes equinovarus, Camptodactyly, Ulnar deviated cl...	ORPHA:171929
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Per...	ORPHA:740
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Aplasia of the left ...	OMIM:600001
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Prominence of the premaxilla, Arachnodactyly, Congenital diaphragmatic hernia, M...	OMIM:614437
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepato...	ORPHA:171
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Deeah Syndrome	Death in infancy, Neonatal respiratory distress, Death in adolescence, Death in childhood, Overla...	OMIM:619004
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Inguinal hernia, Redundant umbilical skin, Atrophic scars, Talipes equinovarus, Umbil...	OMIM:614557
Trichothiodystrophy 1, Photosensitive	Death in infancy, Asthma, Flexion contracture, Absence of subcutaneous fat, Retrognathia	OMIM:601675
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cholestasis, L...	OMIM:300972
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t...	OMIM:214800
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi...	ORPHA:30391
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Pectus excavatum, Clin...	OMIM:619539
Degcags Syndrome	Osteopenia, Syndactyly, Chronic lung disease, Toe syndactyly, Pneumonia, Craniosynostosis, Hiatus...	OMIM:619488
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Pectus excavatum, Retrognathia	ORPHA:52055
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Finger joint h...	OMIM:130050
Slc39A8-Cdg	Osteopenia, Sudden episodic apnea, Craniosynostosis, Elbow flexion contracture, Knee flexion cont...	ORPHA:468699
Early Infantile Epileptic Encephalopathy	Umbilical hernia, Short finger, Broad finger, Broad phalanx of the toes	ORPHA:1934
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Apnea, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:285
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Inguinal hernia, Joint laxity, Down-sloping shoulders, Pectus excavatu...	OMIM:194050
Microcephalic Primordial Dwarfism, Montreal Type	Retrognathia	OMIM:210700
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Camptodactyly of finger, A...	ORPHA:468631
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia	ORPHA:1809
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Isolated Cleft Lip	Supernumerary maxillary incisor, Umbilical hernia, Talipes equinovarus	ORPHA:199302
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Bangstad Syndrome	Retrognathia	OMIM:210740
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po...	OMIM:107480
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microgn...	ORPHA:2556
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Ricket...	OMIM:219800
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Monosomy 22	Finger syndactyly, Clubbing, Contractures of the large joints, Clinodactyly of the 5th finger, Re...	ORPHA:96123
Baraitser-Winter Cerebrofrontofacial Syndrome	Retrognathia, Joint stiffness, Duplication of thumb phalanx, Micrognathia	ORPHA:2995
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Monosomy 22Q13.3	Dental malocclusion, Large hands, Clinodactyly of the 5th finger, Umbilical hernia, Malar flattening	ORPHA:48652
Reactive Arthritis	Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Respiratory in...	ORPHA:29207
Listeriosis	Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Respiratory failure, Sep...	ORPHA:533
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Hypoplasia of the zygomatic bone,...	OMIM:613717
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia, Death in infancy	ORPHA:2241
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukoc...	OMIM:274000
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Inguinal hernia, Congenital hip dislocation, Pectus excavatum, Carious teeth, O...	ORPHA:286
Alg11-Cdg	Retrognathia, Abnormal adipose tissue morphology	ORPHA:280071
Intellectual Developmental Disorder, Autosomal Dominant 68	Broad hallux, 2-3 toe syndactyly, Joint contracture of the 5th finger, Intrauterine growth retard...	OMIM:619934
Branchiootic Syndrome 1	Branchial fistula, Retrognathia	OMIM:602588
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Abnormality of joint mobility, Supernumerary tooth, Retrognathia	ORPHA:314621
Sotos Syndrome	Joint laxity, Hip contracture, Inguinal hernia, Ankle flexion contracture, Craniosynostosis, Pect...	ORPHA:821
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage	ORPHA:169805
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
C Syndrome	Omphalocele, Death in infancy, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Pec...	ORPHA:1308
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Adducted thumb	ORPHA:293725
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Osteomyelitis, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaire...	OMIM:306400
Yunis-Varon Syndrome	Congenital hip dislocation, Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, ...	OMIM:216340
Webb-Dattani Syndrome	Retrognathia, Hip dislocation	OMIM:615926
Genetic Transient Congenital Hypothyroidism	Umbilical hernia	ORPHA:226316
Liver Disease, Severe Congenital	Status asthmaticus, Joint laxity, Inguinal hernia, Pneumonia, Micrognathia, Cough, Umbilical hern...	OMIM:619991
Chromosome 14Q11-Q22 Deletion Syndrome	Mesomelia, Inguinal hernia, Hip subluxation, Micrognathia	OMIM:613457
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Tapered finger, Abnormal toe morphology, Pectus excavatum, Supern...	ORPHA:268261
Cog1-Cdg	Osteopenia, Rhizomelia, Coxa valga, Micrognathia, Rib fusion, Posterior rib gap, Flat acetabular ...	ORPHA:263508
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxem...	OMIM:181000
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Overlapping toe, Proximal placement of thumb, Micromelia, Me...	OMIM:270400
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Red-brown urine, Red urine,...	ORPHA:95159
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalcinosis, Hypern...	ORPHA:90041
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Talipes equinovarus	OMIM:619493
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Abetalipoproteinemia	Osteopenia, Respiratory failure, Talipes equinovarus	ORPHA:14
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Mandibular prognathia, Tap...	OMIM:619950
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, ...	ORPHA:3047
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Niemann-Pick Disease Type C	Abnormal lung morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Respiratory insuf...	ORPHA:646
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,...	ORPHA:77293
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Respiratory failure, Pulmonary lymphangiomyoma...	ORPHA:805
X-Linked Intellectual Disability, Seemanova Type	Retrognathia	ORPHA:85323
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Lipodystrophy, Abnormal cartilage morphology, Osteolysis, Multiple lip...	ORPHA:2396
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, 2-3 toe syndac...	ORPHA:3455
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Malar flattening, Coronal ...	OMIM:600775
White-Kernohan Syndrome	Joint laxity, Hip dysplasia, Retrognathia	OMIM:619426
Cornelia De Lange Syndrome	Delayed eruption of teeth, Toe syndactyly, Abnormal morphology of ulna, Congenital diaphragmatic ...	ORPHA:199
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Intrauterine growth retardation, Retrognathia, Malar flatteni...	OMIM:617157
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Joint hypermobility	ORPHA:457284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Hypoventilation, Joint laxity, Apnea, Breathing dysregulation, Osteoporosis, Hip dysp...	ORPHA:438213
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia	ORPHA:457351
Bor Syndrome	Branchial cyst, Retrognathia	ORPHA:107
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita...	ORPHA:90794
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Umbilical hernia	OMIM:218700
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Retrognathia	ORPHA:2736
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis	OMIM:236680
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter...	OMIM:123700
Thyroid Ectopia	Umbilical hernia	ORPHA:95712
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Polydactyly	OMIM:619869
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Hypospadias, Precocious puberty, Cryptorchidism, Biliary trac...	OMIM:194190
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Micrognathia, Short middle phalanx of finge...	OMIM:607932
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus	ORPHA:1521
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Posterior Urethral Valve	Retrognathia	ORPHA:93110
Branchiooculofacial Syndrome	Proximal placement of thumb, Micrognathia, Short thumb, Preaxial hand polydactyly, Cleft of chin,...	OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Humeroradial synostosis, Elbow flexion contracture, D...	OMIM:276820
Pmm2-Cdg	Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Mandi...	ORPHA:79318
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Loeys-Dietz Syndrome	Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis, Uterine rupture	ORPHA:60030
Norrie Disease	Cryptorchidism, Uterine rupture	ORPHA:649
Steel Syndrome	Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte...	OMIM:615155

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 Col27a1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Col27a1.

No publications found that use IMPC mice or data for Col27a1.

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MGI Allele	Allele Type	Produced
Col27a1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Col27a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Col27a1^{tm36205(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Col27a1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Col27a1^{tm36205(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Col27a1 MGI:2672118

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Col27a1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data