Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Mmp2 MGI:97009

Gene Summary

Name:

matrix metallopeptidase 2

Synonyms:

gelatinase A, MMP-2, GelA, Clg4a, 72kDa type IV collagenase, 72kDa gelatinase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged stomach	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Mmp2^em1(IMPC)Mbp	HOM	Early adult	1.13×10^-10
decreased body length	Mmp2^em1(IMPC)Mbp	HOM	Late adult	1.32×10^-11
decreased bone mineral content	Mmp2^em1(IMPC)Mbp	HOM	Late adult	2.39×10^-05
decreased grip strength	Mmp2^em1(IMPC)Mbp	HOM	Late adult	7.53×10^-05
abnormal heart morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Mmp2^em1(IMPC)Mbp	HOM	Early adult	2.57×10^-06
enlarged lymph nodes	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal vitreous body morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	4.81×10^-06
abnormal skin morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Mmp2^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-05
abnormal skin morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal stomach morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images

Human diseases caused by Mmp2 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 Mmp2 (2 diseases)
Human diseases predicted to be associated with Mmp2 (1799 diseases)

The table below shows human diseases associated to Mmp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Multicentric Osteolysis, Nodulosis, And Arthropathy		Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum		Arthropathy, Osteopenia, Papilledema, Sclerotic cranial sutures, Osteolysis involving bones of th...	ORPHA:371428

The table below shows human diseases predicted to be associated to Mmp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Large fontanel...	ORPHA:2097
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ...	ORPHA:3152
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Larg...	ORPHA:1525
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Optic atrophy, Joint hyperflexibility, Wormian bones, Short distal phalanx of finge...	ORPHA:2787
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Recurrent bacterial meningitis	OMIM:620322
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Epicanthus, Anteverted nares, Depressed nasal...	ORPHA:163649
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m...	ORPHA:3416
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Radia...	OMIM:614078
Trigonocephaly 2	Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Metopic synostosis	OMIM:614485
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Ck Syndrome	Epicanthus, Prominent nasal bridge, Micrognathia, Almond-shaped palpebral fissure, Retrognathia, ...	OMIM:300831
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi...	ORPHA:2790
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:277440
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Potocki-Shaffer Syndrome	Epicanthus, 2-5 finger cutaneous syndactyly, Brachydactyly, Telecanthus, Underdeveloped nasal ala...	OMIM:601224
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Large fontanelles, Depressed nasal ridge, Mandibular aplasia, Sho...	ORPHA:1832
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Intellectual Developmental Disorder, X-Linked 91	Epicanthus, Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Prematur...	ORPHA:221054
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora...	OMIM:132400
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Carious tee...	ORPHA:53
17Q21.31 Microduplication Syndrome	Epicanthus, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Synophrys, Clinodactyly o...	ORPHA:217340
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th met...	OMIM:619638
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Trigonocephaly 1	Epicanthus, Craniosynostosis, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Metopic ...	OMIM:190440
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arc...	ORPHA:178303
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent n...	OMIM:614886
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Congestive heart failure, Growth delay, Abnormal aortic valv...	ORPHA:1194
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract...	OMIM:610967
Adenylosuccinate Lyase Deficiency	Prominent metopic ridge, Anteverted nares, Short nose	ORPHA:46
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffnes...	ORPHA:2635
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ...	OMIM:618577
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Abnormality of the elbow, Limitation of joint mobility, Slende...	ORPHA:1486
L-2-Hydroxyglutaric Aciduria	Neoplasm of the nervous system, Infectious encephalitis	ORPHA:79314
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure	OMIM:616863
American Trypanosomiasis	Skin rash, Myocarditis, Congestive heart failure, Autoimmune antibody positivity, Cardiomyopathy,...	ORPHA:3386
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Hypertension...	OMIM:166300
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Meningitis, Fulminant hepatitis, Vasculitis, Lymphoma, Recurren...	OMIM:308240
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi...	ORPHA:93329
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr...	OMIM:264700
Q Fever	Rheumatoid factor positive, Abnormal left ventricular function, Cholecystitis, Lupus anticoagulan...	ORPHA:781
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto...	ORPHA:171839
Proteus Syndrome	Depressed nasal bridge, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Calvarial hyperost...	OMIM:176920
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension	OMIM:610947
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis, Hypotension	ORPHA:99825
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Wide distal femoral m...	OMIM:613320
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones...	ORPHA:1798
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Stickler Syndrome Type 1	Retinal detachment, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor morphology...	ORPHA:90653
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Coxa valga, Carious teeth, Wide...	OMIM:269300
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Ptosis, Brachydactyly, Narrow nasal bridge, Abnormality of the wrist, Abno...	ORPHA:2511
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me...	ORPHA:93351
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Lacrimal duct stenosis, Pneumonia, Depressed nasal bridge, Short me...	OMIM:613328
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormality of...	ORPHA:2412
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Epicanthus, Wide nose, Camptodactyly of finger, Crani...	ORPHA:3210
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Broad hallux, Depressed nasal bridge, Highly arched eyebrow,...	OMIM:614541
Immunodeficiency 37	Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Fg Syndrome 5	Epicanthus, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Metopic synost...	OMIM:300581
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Ptosis, Short metacarpal, Short fourth metatarsal, Overlapping toe, Epicanthus, Crani...	OMIM:616723
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Arrhythmia, Infectious encepha...	ORPHA:99745
Lyme Disease	Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis	ORPHA:91546
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del...	OMIM:620099
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Epicanthus, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premat...	ORPHA:3369
Eales Disease	Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic...	ORPHA:40923
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Retinal detachment, Metaphyseal widening, Osteopor...	ORPHA:2788
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Genu recurvatum, Anteverted nares, Optic atrophy, Reduced bone mineral density, Slend...	ORPHA:1185
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ...	OMIM:156510
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty...	OMIM:175700
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Depressed nasal bridge, Cortical s...	OMIM:122860
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ...	OMIM:208230
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Red...	ORPHA:561
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Recurrent herpes, Patent foramen ovale, Infectious encepha...	ORPHA:391487
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose	OMIM:125700
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary teeth, 4-5 finger s...	OMIM:257850
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Melorheostosis	Increased bone mineral density, Joint stiffness, Arthritis, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi...	OMIM:307200
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,...	ORPHA:2409
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Dis...	OMIM:608154
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Malar flattening, Short nose, Conv...	ORPHA:2145
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na...	ORPHA:2863
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Large fontanelles, ...	OMIM:259100
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Broad hallux, Depressed nasal bridge, Short thumb, Premature osteoarthriti...	OMIM:165800
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Meningitis, Infectious encepha...	ORPHA:36234
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Premature ost...	OMIM:184840
Wild Type Abeta2M Amyloidosis	Arthropathy, Gastrointestinal hemorrhage, Congestive heart failure, Bone cyst, Abnormal shoulder ...	ORPHA:85446
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Meningitis, Unusual CNS i...	ORPHA:1163
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Meningitis, Hypotension, Infectious encephalitis	ORPHA:83317
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand p...	OMIM:136760
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy...	OMIM:601390
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Choanal stenosis, Malar flattening,...	OMIM:241310
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal limb bo...	ORPHA:2204
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Micrognat...	OMIM:265800
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Inc...	ORPHA:37748
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg...	ORPHA:61
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:619736
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Zika Virus Disease	Maculopapular exanthema, Skin rash, Meningitis, Arthritis, Conjunctivitis, Intrauterine growth re...	ORPHA:448237
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Telecanthus, Short femur, Fractured radius, Anteverted nares, Decreased fibular diame...	OMIM:616897
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd...	ORPHA:2710
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Joint stif...	ORPHA:1466
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Teebi Hypertelorism Syndrome 1	Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, H...	OMIM:145420
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures, Delayed...	ORPHA:1129
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Epicanthus, Micrognathia, Facial hyper...	ORPHA:2780
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Epicanthus, Anteverted nares, Short nose, Micrognathia	ORPHA:2015
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Conj...	ORPHA:207
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus...	OMIM:618982
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Wide nose, Depressed nasal ri...	ORPHA:2831
Kerion Celsi	Lymphadenopathy	ORPHA:499
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Osteopenia, Papilledema, Sclerotic cranial sutures, Osteolysis involving bones of th...	ORPHA:371428
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang...	OMIM:161700
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Splenomeg...	ORPHA:2746
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cohen Syndrome	Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye ma...	OMIM:216550
Multiple Epiphyseal Dysplasia, Beighton Type	Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphology, Arthralgia of t...	ORPHA:166011
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl...	OMIM:615546
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of...	ORPHA:47612
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Pfapa Syndrome	Arthritis, Infectious encephalitis, Recurrent pharyngitis	ORPHA:42642
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Pachydermoperiostosis	Gastrointestinal hemorrhage, Ptosis, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Li...	ORPHA:2796
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr...	ORPHA:139402
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h...	ORPHA:2658
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Eczema, Craniosynostosis, Micrognathia, Absent thumb, Carious...	ORPHA:96097
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow...	OMIM:609220
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho...	ORPHA:90650
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Genu recurvatum, Camptodactyly of finge...	ORPHA:915
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl...	ORPHA:1452
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar flattening, Shor...	OMIM:601853
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arth...	ORPHA:2771
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, S...	ORPHA:969
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hyperflexibility, Blepharophimosis, Short nose, Downs...	ORPHA:1695
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Epicanthus, Toe syndactyly, Telecanthus, Camptodactyly of f...	ORPHA:1327
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the...	ORPHA:75508
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, Short palm, Short phalanx of finger, Cortical irregularity, Acne, Antev...	OMIM:249420
14Q11.2 Microdeletion Syndrome	Epicanthus, Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Toe clin...	ORPHA:261120
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Arthritis, Keratoconjunctivitis sicca, Infectious encephal...	ORPHA:779
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:97290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Melanoma, Neoplasm, Infectious encephalitis	ORPHA:2481
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Lymphoproliferative Syndrome 2	Lymphoproliferative disorder, Severe varicella zoster infection, Lymphoma, Recurrent pneumonia, E...	OMIM:615122
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:319487
Congenital Enterovirus Infection	Skin rash, Pericardial effusion, Myocarditis, Meningitis, Hepatitis, Cardiomyopathy, Hypotension,...	ORPHA:292
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ...	OMIM:252100
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Nablus Mask-Like Facial Syndrome	Telecanthus, Sandal gap, Sparse eyelashes, Short hallux, Tapered finger, Hypoplasia of the maxill...	OMIM:608156
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Periarticular soft-tissue mass, Synovitis, Hyperexte...	OMIM:601492
Crouzon Syndrome	Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Optic atr...	OMIM:123500
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Multi...	OMIM:259410
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Epicanthus, Depressed ...	ORPHA:794
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor...	ORPHA:85198
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Anteverted nares, Wi...	OMIM:616260
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Legionnaires Disease	Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Hypotension, Arrhythmi...	ORPHA:549
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Shallow orbits, Worm...	OMIM:112240
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Abno...	ORPHA:1458
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges ...	OMIM:190350
Gm1 Gangliosidosis	Recurrent respiratory infections, Short stature, Ventricular septal defect, Congestive heart fail...	ORPHA:354
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Lambdoidal craniosynost...	OMIM:616294
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Epicanthus, Telecanthus, Overlapping toe, Thick eyebrow, Anteverted nares, F...	OMIM:619383
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid...	ORPHA:261144
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Shor...	ORPHA:221016
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Meningococcal Meningitis	Skin rash, Shock, Infectious encephalitis, Hypotension	ORPHA:33475
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Short toe, Osteoarthritis, Abnormality of the elbow, Abn...	ORPHA:429
Gorlin-Chaudhry-Moss Syndrome	Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Aplasia/Hypoplasia ...	ORPHA:2095
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Metaphy...	OMIM:263210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet...	OMIM:618363
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, A...	ORPHA:247691
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Clinodactyly of the 5th finger, Short nose, Downslanted pa...	ORPHA:217385
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicula...	OMIM:608612
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Persistent open anterior fontanelle, Telecanthus, Arachnodactyly, Mitral regurgitat...	OMIM:615539
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,...	OMIM:300310
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Micrognathia	ORPHA:1423
Chung-Jansen Syndrome	Epicanthus, Thick eyebrow, Anteverted nares, Micrognathia, Tapered finger, Synophrys, Upslanted p...	OMIM:617991
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Bilateral ptosis, Pansynostosis, Downsl...	OMIM:180750
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p...	ORPHA:1234
Coffin-Siris Syndrome 6	Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, Narrow palpebral fissure, Worm...	OMIM:617808
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Microgn...	OMIM:620157
Chromosome 3Pter-P25 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Overlapping toe, Anteverted nares, Postaxial polydactyly, Mi...	OMIM:613792
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Prominent metopic ridge, Highly arched eyebrow, Optic di...	ORPHA:2995
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Anteverted nares, Depressed nasal bridge, Large tarsal bon...	OMIM:215150
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi...	OMIM:619248
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,...	ORPHA:3452
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Micrognathia, Bilateral ptosis, Osteoarthritis, Squared iliac bones, H...	OMIM:618000
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Short nose	ORPHA:1495
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Anteverted nares, Carious teeth, Abnormality of the elbow, Short nose, Pulmonic steno...	ORPHA:2701
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi...	OMIM:619131
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Autosomal Recessive Primary Microcephaly	Upslanted palpebral fissure, Abnormal cortical bone morphology	ORPHA:2512
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit...	OMIM:604416
New-Onset Refractory Status Epilepticus	Infectious encephalitis, Autoimmunity	ORPHA:363558
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Metatarsus adductus, Elbow disloca...	ORPHA:2249
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Prominent metopic ridge, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Rec...	ORPHA:314655
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara, Double-laye...	ORPHA:93307
Avian Influenza	Pneumonia, Congestive heart failure, Meningitis, Hepatitis, Conjunctivitis, Infectious encephalit...	ORPHA:454836
Peho-Like Syndrome	Epicanthus, Tapered finger, Optic atrophy, Short nose, Retrognathia	OMIM:617507
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Hypoplasia of the ulna, A...	ORPHA:2909
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Hypopla...	ORPHA:261295
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Wormian bones, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Meta...	OMIM:300232
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Cataract, Ventricular septal defect, Hepatomegaly	OMIM:614876
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Anteverted nares, Depressed ...	ORPHA:221139
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto...	OMIM:613101
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypoplasia of t...	OMIM:167730
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ...	ORPHA:485
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Optic disc coloboma, Upslanted palpebral fissure, Choanal ste...	ORPHA:1790
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short palm, Short p...	OMIM:611717
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ...	OMIM:616229
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hypoplas...	ORPHA:397973
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Shall...	OMIM:182212
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Cerebral Visual Impairment	Unusual CNS infection, Intracranial hemorrhage, Ischemic stroke, Meningitis, Infectious encephalitis	ORPHA:447788
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Knee osteoarthritis, ...	ORPHA:85408
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R...	ORPHA:117
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Large fon...	ORPHA:3078
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu...	OMIM:616602
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Malar flattening, Short nose, Retrognathia, Downslanted palpebral fissures	OMIM:613670
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Bi...	ORPHA:314679
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap...	ORPHA:1657
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Stickler Syndrome, Type I	Arthropathy, Retinal detachment, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microg...	OMIM:108300
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Depressed nasal bridge, Micrognathia, Tombstone-shaped proximal phalan...	OMIM:108721
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Genu recurvatum, Metaphyseal widening...	OMIM:184260
Autosomal Dominant Omodysplasia	Short humerus, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar dislocation, Sho...	ORPHA:93328
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nos...	OMIM:612940
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Telecanthus, Joint stiffness, Synophrys, Anosmia, Genu valgum, Hypoplasia of the z...	ORPHA:1295
3Mc Syndrome 2	Ptosis, Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynos...	OMIM:265050
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Malar flattening, Osteoarthritis, Micrognathia, Abnormal metacarpal morphology	ORPHA:166100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Atopic dermatitis, Retinal neovascularization, Micrognathia	OMIM:619074
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Supernumerary tooth, Metopic synostosis, Triphalangeal th...	OMIM:604757
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Epicanthus, Dental malocclusion, Wide nasal bridge, Upslanted palpebral fis...	OMIM:619149
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat...	ORPHA:33110
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Crani...	ORPHA:2462
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Immunodeficiency, Common Variable, 2	Autoimmunity, Recurrent pneumonia, Lymphoma, Bronchiectasis, Recurrent bacterial infections, Neop...	OMIM:240500
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increas...	ORPHA:397596
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, ...	OMIM:618736
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Short nose, Wide nasal bridge, Narrow p...	OMIM:613604
Listeriosis	Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumonia, Pustule, Myocardit...	ORPHA:533
Stuve-Wiedemann Syndrome 1	Enlarged joints, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tib...	OMIM:601559
Achondrogenesis	Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral den...	ORPHA:932
Difference Of Sex Development-Intellectual Disability Syndrome	Synophrys, Reduced bone mineral density, Genu valgum, Short nose, Spina bifida occulta	ORPHA:2983
Ring Chromosome 8 Syndrome	Deviation of finger, Epicanthus, Anteverted nares, Short nose	ORPHA:1450
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Epicanthus, Dep...	OMIM:608022
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Epicanthus, Prom...	OMIM:619880
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger...	OMIM:101400
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Marshall Syndrome	Retinal detachment, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyp...	ORPHA:560
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti...	OMIM:610968
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Weiss-Kruszka Syndrome	Ptosis, Prominent metopic ridge, Epicanthus, Anteverted nares, Highly arched eyebrow, Proximal pl...	OMIM:618619
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Keipert Syndrome	Broad hallux phalanx, Ptosis, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Short h...	ORPHA:2662
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ...	OMIM:300755
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene...	ORPHA:93360
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacar...	OMIM:118651
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Epicanthus, Palpebral edema, Anteverted nares, Depressed nasal bridge, W...	ORPHA:363659
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Recurrent skin infections, Blepharophimosis, Broad nasal tip, Flexion cont...	ORPHA:391372
Achondrogenesis Type 1A	Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Short foot...	ORPHA:93299
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Elbow dislocation, Limitation of joint mobilit...	ORPHA:2741
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Knee flexion contracture, Spina bifida occulta, Wrist f...	OMIM:193700
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Abnormal dental enamel morphol...	ORPHA:3258
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Neutro...	OMIM:271510
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Pierpont Syndrome	Telecanthus, Wide nose, Blepharophimosis, Broad nasal tip, Short toe, Short foot, Narrow palpebra...	OMIM:602342
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads	OMIM:271600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Persistence of primary teeth, Vasculitis, Arthritis, Anemia	ORPHA:375
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Anteverted nares, Short toe, Synophrys, Short nose, Spina bifida occulta,...	OMIM:617877
Hartnup Disease	Skin rash, Infectious encephalitis, Short stature	ORPHA:2116
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage, Wor...	OMIM:309400
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Spa...	OMIM:614008
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Wormian bones, Congenital hip dislocation, Anemia	OMIM:614450
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Epicanthus, Anteverted nare...	OMIM:211750
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha...	ORPHA:166272
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Thick nasal alae, ...	ORPHA:79345
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Hypochondroplasia	Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short femoral neck, Ma...	OMIM:146000
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Short thumb, Synoph...	ORPHA:401935
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221008
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Br...	ORPHA:73263
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Micrognathia, Generalized joint ...	OMIM:613848
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cdags Syndrome	Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Large fontanelles, Short ...	OMIM:603116
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis...	ORPHA:31204
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Epicanthus, An...	OMIM:101800
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow	OMIM:618302
Linear Iga Dermatosis	Renal neoplasm, Autoimmunity, Epistaxis, Bladder neoplasm, Inflammation of the large intestine	ORPHA:46488
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Epicanthus, Depressed nasal bridge, Craniosynostosis, Micrognathia, Blephar...	OMIM:614114
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Abnormal metaphyseal tr...	OMIM:224300
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Osteoporosis, Ankle...	OMIM:615398
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Achondrogenesis Type 1B	Anteverted nares, Abnormal enchondral ossification, Micrognathia, Short foot, Short nose	ORPHA:93298
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit...	OMIM:620321
White-Kernohan Syndrome	Joint laxity, Epicanthus, Telecanthus, Thick eyebrow, Anteverted nares, Depressed nasal bridge, U...	OMIM:619426
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Distal Deletion 10Q	Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Clinodactyly of the...	ORPHA:96148
Microsporidiosis	Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit...	ORPHA:2552
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Short...	ORPHA:85279
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology	ORPHA:2206
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Retinal detachment, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges...	OMIM:609616
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of ...	OMIM:217980
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormal eyelid morphology, Neutropenia, Clinodactyly of...	ORPHA:193
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal phalanges of th...	OMIM:271665
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge...	OMIM:614749
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose	OMIM:618379
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Abnormal tibia morphol...	ORPHA:666
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font...	OMIM:617802
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, S...	ORPHA:3121
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis	ORPHA:567544
Craniosynostosis 4	Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoi...	OMIM:600775
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p...	OMIM:212720
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Epicanthus, Anteverted nares, Pneumonia, Depressed nasal bridge,...	OMIM:614069
Poliomyelitis	Meningitis, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis	ORPHA:2912
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia ...	ORPHA:364577
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Cran...	OMIM:252600
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arche...	OMIM:618804
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Carious teeth, Congestive heart failure, Flexion contracture, Osteoly...	ORPHA:220393
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Carious teeth, Choanal a...	ORPHA:1716
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Telecant...	ORPHA:50945
Intellectual Developmental Disorder, Autosomal Dominant 65	Prominent metopic ridge, Anteverted nares, Micrognathia, Synophrys, Bulbous nose, Wide nasal brid...	OMIM:619320
Incontinentia Pigmenti	Short stature, Skin rash, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retina...	ORPHA:464
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Depressed nasal bridge, Micrognathia, Coxa val...	OMIM:619833
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Geleophysic Dysplasia 1	Short palm, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga,...	OMIM:231050
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis...	ORPHA:3156
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Abnormality of the nose, Splenomegaly, Vasculit...	ORPHA:575
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,...	ORPHA:508533
Oculodentodigital Dysplasia	Clinodactyly, Uveitis, Joint contracture of the 5th finger, Short middle phalanx of the 5th finge...	OMIM:164200
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho...	OMIM:615485
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Curly...	ORPHA:163654
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Large fontanelles, Osteolysis, O...	ORPHA:90154
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Wide anterior fontanel, Short nose...	ORPHA:2143
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Optic atrophy, Epiphyseal stippling, S...	ORPHA:1914
Verheij Syndrome	Joint laxity, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Hip di...	OMIM:615583
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
Faciocardiomelic Syndrome	Osteopenia, Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental m...	OMIM:612731
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Congen...	ORPHA:77297
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,...	ORPHA:2041
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodacty...	OMIM:618506
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Localized Scleroderma	Fasciitis, Abnormality of the nose, Raynaud phenomenon, Flexion contracture, Dental malocclusion,...	ORPHA:90289
Au-Kline Syndrome	Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ridge, Sagittal craniosynostosi...	OMIM:616580
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil...	ORPHA:464370
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b...	OMIM:244460
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, ...	ORPHA:261211
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Coxa valga, Micrognathia, Joint stiffness...	OMIM:248370
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Poikiloderma With Neutropenia	Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Joint laxity, Depressed nasal bridge, Spar...	OMIM:604173
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxilla, Bulbous...	ORPHA:481152
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl...	OMIM:166200
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95716
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Micrognathia, Hypoplasia of the ...	OMIM:213980
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Upslanted palpebral fissure, Ab...	ORPHA:1988
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, Chronic otitis media, Short phala...	OMIM:614188
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Long eyelashes, Short nose, Spina bifida oc...	ORPHA:1514
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis	ORPHA:664
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Dep...	OMIM:259775
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Prominent nose, Short middle phalanx of the 2nd finger, Partial duplicat...	OMIM:617926
Hemochromatosis, Type 2A	Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhyt...	OMIM:602390
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Depressed nasal bridge, Optic nerve hypoplasia, Highly arched eyebrow, P...	OMIM:618828
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Ohdo Syndrome	Joint laxity, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyebrow,...	OMIM:249620
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fra...	OMIM:618188
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb...	OMIM:608184
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma	ORPHA:281090
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hemochromatosis, Type 3	Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger...	ORPHA:251028
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Synophrys, Bulbous nose, Optic atrophy, Upslanted palpebral fissure, T...	OMIM:618737
Cinca Syndrome	Joint dislocation, Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Retrob...	ORPHA:1451
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Cardiomegaly, Thickened cortex of long bones, Myocardial fibrosi...	OMIM:253250
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger, Wide nasal bridge	OMIM:309620
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Abnormal metacarpal morphology...	ORPHA:93262
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Synophrys, Short nose, Thick eyebrow	ORPHA:2429
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge, Highly arched eyebrow, Ptosis	ORPHA:438178
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Epicanthus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Upslanted palpeb...	OMIM:613544
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Clark-Baraitser Syndrome	Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Upslanted palpebral fissure, Na...	OMIM:617752
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Takayasu Arteritis	Increased inflammatory response, Myocardial infarction, Vasculitis, Anemia, Arthritis, Hypertensi...	ORPHA:3287
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ...	ORPHA:776
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Cartilage destruction, Myocarditis, Leukocytosis, Splenome...	ORPHA:829
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomeg...	OMIM:607115
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture...	OMIM:224690
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Dislocated radial head, Joint laxity...	OMIM:102500
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Recurrent fractures, Trismus, Meta...	ORPHA:3206
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral...	OMIM:602111
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Wide nasal bridge, Neutropenia, Joint contracture, Retrognathia, Sho...	OMIM:618005
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Highly arched eyebrow, Tapered finger, Broad nasal tip, Short toe, Wide na...	OMIM:239300
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Choanal stenosis...	OMIM:269150
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis	ORPHA:540
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Prominent nasal bridge, Underdevelo...	ORPHA:2083
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Aortic regurgitation, Hip dislocation, Wormian bones, Delayed cranial s...	OMIM:616603
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Tetrasomy 5P	Epicanthus, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Long fingers, Wide ant...	ORPHA:3309
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Advanced eruption of teeth, Thick nasal alae, Short metacarpal, Pseudo...	ORPHA:192
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Distichiasis, Anemia, Micrognathia	ORPHA:2598
Farber Disease	Abnormality of the knee, Thrombocytopenia, Short toe, Abnormality of the elbow, Osteoporosis, Fle...	ORPHA:333
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly	ORPHA:88643
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep...	ORPHA:1304
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Osteoporosis, Hypertension, Hyperostosis frontalis interna	ORPHA:77296
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal ...	OMIM:277450
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p...	ORPHA:277
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Dilated cardiom...	ORPHA:3342
Pontocerebellar Hypoplasia, Type 2E	Epicanthus, Wide nose, Micrognathia, Flexion contracture, Optic atrophy, Osteoporosis, Facial tel...	OMIM:615851
Omodysplasia 1	Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Depressed nasal bri...	OMIM:258315
Immunodeficiency 59 And Hypoglycemia	Recurrent skin infections, Short stature, Herpes simplex encephalitis, Recurrent upper respirator...	OMIM:233600
Dend Syndrome	Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Bilateral ptosis, Clinodactyl...	ORPHA:79134
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Fetal Hydantoin Syndrome	Epicanthus, Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Triphalange...	ORPHA:1912
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Postaxial hand polydactyly, Hip dislocation...	OMIM:241800
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Lowe...	OMIM:616462
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p...	OMIM:614524
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Malar flatte...	OMIM:219200
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sp...	OMIM:605627
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Synophrys, Ulnar ...	ORPHA:1895
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Gapo Syndrome	Epicanthus, Sparse eyelashes, Joint hypermobility, Delayed closure of the anterior fontanelle, Mi...	OMIM:230740
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Tricuspid regurgitation, Anteverted nare...	ORPHA:228396
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Short nose, Short palpebral fissure, Bilateral choanal...	ORPHA:1200
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Decreased circu...	OMIM:616638
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Metaphyseal cupping of metacarp...	OMIM:300863
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C...	OMIM:612714
Baker-Gordon Syndrome	Joint laxity, Prominent nasal tip, Epicanthus, Short nose	OMIM:618218
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Perlman Syndrome	Epicanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia, Ptosis	ORPHA:2849
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Aortic regurg...	ORPHA:85438
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Absent eyebrow, Congenital hip dislocation, Spa...	OMIM:268400
Rhiny	Short nose, Anteverted nares	OMIM:180360
Hunter-Macdonald Syndrome	Aortic regurgitation, Epiphyseal dysplasia, Blepharophimosis, Metatarsus adductus, Cubitus valgus...	OMIM:611962
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Micrognathia, H...	OMIM:210730
Ogden Syndrome	Microretrognathia, Broad hallux, Underdeveloped nasal alae, Aplasia/Hypoplasia of the eyebrow, Sh...	ORPHA:276432
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega...	OMIM:256550
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, I...	ORPHA:761
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti...	OMIM:616100
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Alkaptonuria	Joint dislocation, Myocardial infarction, Joint stiffness, Cartilage destruction, Abnormality of ...	ORPHA:56
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi...	OMIM:215140
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Epicanthus, Telecanthus, Delayed closure of the anterior fontanelle, Mi...	OMIM:225410
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Desbuquois Dysplasia 2	Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Genu varum, Joint lax...	OMIM:615777
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose, Dela...	OMIM:613038
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Join...	ORPHA:809
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena...	OMIM:613730
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis	ORPHA:75234
Lathosterolosis	Prominent metopic ridge, Toe syndactyly, Epicanthus, Anteverted nares, Micrognathia, Postaxial ha...	ORPHA:46059
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Optic atrophy, Upslanted palpebral fissure, Hip dysplasia, H...	OMIM:617183
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the ma...	OMIM:608328
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Broad nasal tip, Wide anterior font...	ORPHA:488437
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Recurrent fract...	OMIM:309583
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Optic atrophy, Right bund...	OMIM:618590
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Hypopla...	ORPHA:93296
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula...	ORPHA:39812
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Malar flattening, Absent ext...	OMIM:109120
Ayme-Gripp Syndrome	Mandibular prognathia, Ptosis, Pericarditis, Broad eyebrow, Depressed nasal bridge, Tapered finge...	OMIM:601088
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Hyperextensibility of the...	OMIM:130000
Marshall-Smith Syndrome	Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Choanal...	OMIM:602535
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Joint hypermobility, Prominent nasal bridge, Joint stiffness, Long nose, Tracheobronchomalacia, S...	OMIM:619184
Hennekam-Beemer Syndrome	Wide nose, Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Micrognathia, Mastocyt...	ORPHA:2135
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Short foot, Short long b...	OMIM:102370
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Unilateral ptosis, Tachycardia, Epicanthus, Thick eyebrow, Tapered finger, Bulbous...	ORPHA:485405
Opsismodysplasia	Short metacarpal, Anteverted nares, Depressed nasal bridge, Squared iliac bones, Hypoplastic pubi...	OMIM:258480
Achondroplasia	Short nasal bridge, Anteverted nares, Depressed nasal bridge, Hip joint hypermobility, Bowing of ...	ORPHA:15
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re...	OMIM:610984
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Acute Disseminated Encephalomyelitis	Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Disseminated viral...	ORPHA:83597
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Portal hypertension, Joint stiffness,...	ORPHA:465508
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Periodontitis, Decreased skull ossif...	ORPHA:955
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Subreti...	ORPHA:357074
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Chorioretinal coloboma, Sparse eyebrow, Supernumerary tooth, ...	OMIM:234100
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Absent eyebrow, Abnormal dental enamel morphology, Tarsal synostosis,...	ORPHA:85199
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, F...	OMIM:617591
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Absent eyelashes, Flexion contracture, Large fontanelles, Osteolysis...	ORPHA:90153
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Retinal detachment, Recurrent joint dislocation, Recurrent skin infections, Cr...	ORPHA:2953
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Shortening of all ...	OMIM:601356
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot	ORPHA:1381
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognat...	ORPHA:94068
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Depressed nasal bridge, Decreased circulating antibody level, Agammaglobulinemia, Pol...	OMIM:616910
9P13 Microdeletion Syndrome	Microretrognathia, Epicanthus, Anteverted nares, Highly arched eyebrow, Joint stiffness, Abnormal...	ORPHA:324313
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,...	OMIM:610682
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Synophrys, Upslanted palpebral fissure, Short nose, Joint hypermobility	OMIM:300143
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Highly arched eyebrow, Bilateral ptosis, Synophrys, 2-3 toe syndact...	OMIM:614701
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Ca...	ORPHA:93325
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Intellectual Disability-Strabismus Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Rocker bottom foot, Highly arched eyebrow, Micro...	ORPHA:363528
Weill-Marchesani Syndrome 1	Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Mitral regu...	OMIM:277600
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Mandibuloacral Dysplasia	Narrow nose, Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defe...	ORPHA:2457
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphal...	OMIM:613870
Aymé-Gripp Syndrome	Prominent metopic ridge, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Craniosynostos...	ORPHA:1272
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Bronchi...	OMIM:242860
Rift Valley Fever	Skin rash, Hematemesis, Severe viral infection, Retinal hemorrhage, Hepatitis, Uveitis, Melena, I...	ORPHA:319251
Trisomy 20P	Finger syndactyly, Epicanthus, Anteverted nares, Camptodactyly of finger, Highly arched eyebrow, ...	ORPHA:261318
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin...	ORPHA:1855
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Parietal Foramina 1	Wormian bones	OMIM:168500
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Wide nose, Hypoplasia of the maxilla, Abnormal eyelash morpholog...	ORPHA:2399
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal...	OMIM:156400
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Short nose, Anteverted nares, Metopic synostosis	OMIM:613735
3C Syndrome	Finger syndactyly, Depressed nasal bridge, Micrognathia, Optic atrophy, Wide nasal bridge, Abnorm...	ORPHA:7
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Bulbous nose, Wide nasal b...	ORPHA:369891
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Micrognathia, Hypoplasia of the maxil...	ORPHA:96334
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Osteopenia, Joint laxity, Anteverted nares, Prominent nasal bridge, De...	OMIM:607812
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Micrognathia, Joint hyperflexibil...	ORPHA:2789
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage	OMIM:616414
Desmosterolosis	Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Alg9-Cdg	Microretrognathia, Prominent metopic ridge, Tricuspid regurgitation, Telecanthus, Depressed nasal...	ORPHA:79328
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph...	OMIM:619463
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Flexion c...	OMIM:300534
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ptosis, Epicanthus, Sandal gap, Depressed nasal bridge, Tapered finger, Micrognathia, Synophrys, ...	OMIM:617061
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co...	ORPHA:477
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micro...	OMIM:618460
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach	OMIM:114500
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micrognathia, Metaphyseal widening, Limitation of joi...	OMIM:224400
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ...	ORPHA:37553
Tetrasomy 12P	Delayed eruption of teeth, Telecanthus, Anteverted nares, Sparse eyebrow, Upslanted palpebral fis...	ORPHA:884
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Flexion contracture, Ankylobl...	OMIM:263650
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Epicanthus, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5...	ORPHA:391408
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Avascular necrosis of the capital femoral epiphysis, Malar flattening, Cervical subluxation, Arth...	OMIM:184100
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Optic atrophy, Joint contracture, Short nose	OMIM:615419
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Prominent n...	ORPHA:357058
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Autoimmunity, Abnormal heart valve morphology, Pericardial effusion, Men...	ORPHA:36412
Atelosteogenesis Type I	Joint dislocation, Telecanthus, Short femur, Micrognathia, Abnormal ossification involving the fe...	ORPHA:1190
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:275
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Ptosis, Anteverted nares, Hypo...	OMIM:305400
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Upsl...	ORPHA:79113
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:222448
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlar...	ORPHA:75249
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Clinodactyly of the 5th finger...	OMIM:115150
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Recurrent bacterial infections, Chronic ora...	OMIM:308230
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Splenomegaly,...	ORPHA:93
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta	OMIM:184300
Microcephaly-Capillary Malformation Syndrome	Ptosis, Wide nose, Hypoplasia of the maxilla, Optic atrophy, Clinodactyly, Short distal phalanx o...	OMIM:614261
Refsum Disease, Classic	Cataract, Cardiomegaly, Cardiomyopathy, Retinal degeneration, Abnormal renal physiology	OMIM:266500
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,...	OMIM:180860
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Lagophthalmos, Micrognat...	OMIM:614744
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome	OMIM:269920
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac...	OMIM:607765
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Skin rash, Meningitis, Infectious encephalitis	OMIM:603553
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hemochromatosis, Type 4	Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia	OMIM:606069
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Aplasia/Hypoplasia of the...	OMIM:613803
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Laron Syndrome	Abnormal joint morphology, Short long bone	OMIM:262500
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunctivitis, O...	ORPHA:3392
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Epicanthus, Anteverted nares, Short nose	ORPHA:531
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Promi...	ORPHA:1225
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac...	OMIM:608728
Prolidase Deficiency	Depressed nasal bridge, Eczema, Micrognathia, Thrombocytopenia, Splenomegaly, Recurrent pneumonia...	OMIM:170100
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Primary tes...	ORPHA:85450
Trisomy 10P	Thumb contracture, Wide cranial sutures, Epicanthus, Anteverted nares, Depressed nasal bridge, Mi...	ORPHA:171929
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Hemophagocytic Lymphohistiocytosis, Familial, 1	Meningitis, Infectious encephalitis	OMIM:267700
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyar...	OMIM:142680
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Toe syndactyly, Anteverted nares, Depressed nasal brid...	ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Clinodactyly, Flexion contracture, Depressed nasal bridge, Tapered finger, Short pa...	OMIM:309590
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Sparse eyelashes, Anteverted nares, Micrognathia, Carious teeth, Sparse eyebrow,...	OMIM:613026
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Arrhythmia, Infectiou...	ORPHA:68
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Micrognathia, Sclerosis of skull base, Wormian bones, Malar flatte...	OMIM:130720
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Optic atrophy, Short nose, Micrognathia	OMIM:615042
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Schwartz-Jampel Syndrome	Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally os...	ORPHA:800
Alexander Disease	Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death	ORPHA:58
Down Syndrome	Joint laxity, Epicanthus, Sandal gap, Depressed nasal bridge, Depressed nasal ridge, Abnormality ...	ORPHA:870
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Ante...	OMIM:180700
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long fingers, ...	OMIM:608149
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, A...	OMIM:616854
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud phenomenon, Crusting ery...	ORPHA:324625
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip, Postaxial polydactyly, Genu valgum	OMIM:619142
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ...	OMIM:620292
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia	ORPHA:75233
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Baraitser-Winter Syndrome 1	Epicanthus, Anteverted nares, Highly arched eyebrow, Duplication of phalanx of hallux, Wide nasal...	OMIM:243310
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh...	ORPHA:183
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Anteverted nares, Depressed nasal bridge, Sparse ...	OMIM:252500
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Partial duplication of thu...	OMIM:616331
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Psoriasif...	ORPHA:85436
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Frontofacionasal Dysplasia	Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Short no...	ORPHA:1791
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Depressed nasal bridge, Cra...	ORPHA:1299
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Micrognathia, Optic atrophy, Dental malocclusion, Contractures of the large joints, S...	ORPHA:329178
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Narrow nose, Short iliac bones, Metaphyseal sclerosis, Raynaud ...	OMIM:607944
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Splenomegaly, Anemia	OMIM:618107
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Curry-Jones Syndrome	Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Blepharophimosis, Preaxial han...	OMIM:601707
Acrocephalopolydactylous Dysplasia	Epicanthus, Craniosynostosis, Postaxial hand polydactyly, Upslanted palpebral fissure, Polyspleni...	OMIM:200995
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Anteverted nares, Broad femoral neck, Micrognathia, Thrombocytopenia, Squared iliac b...	OMIM:611209
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Broad nasal tip, Small hand, Spina bifida o...	ORPHA:488434
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopenia, Lymphopenia	OMIM:620210
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,...	OMIM:108720
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Sagitta...	OMIM:609942
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Narrow nasal bridge, Arachnodactyly, Promi...	OMIM:309520
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic lupus eryth...	ORPHA:90036
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Epicanthus, Depressed nasal bridge, Micrognathia, Optic atrophy, Wide na...	OMIM:613457
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Upslanted palpebral fissure, Short nose...	ORPHA:228384
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Hypoplastic iliac w...	OMIM:180849
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
D-Bifunctional Protein Deficiency	Osteopenia, Epicanthus, Depressed nasal bridge, Micrognathia, Splenomegaly, Split hand, Large fon...	OMIM:261515
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormal eyelash morphology, Postaxial hand polydactyly, Synophrys,...	ORPHA:1702
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Anteverted nares, Optic neuropathy, Broad is...	OMIM:619727
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Delayed closure of the anterior fontanelle, Retinal ...	OMIM:127000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Upslanted palpebral f...	ORPHA:496790
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Hip dislocation, Large font...	OMIM:219150
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Choanal atresia,...	OMIM:617746
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa...	OMIM:257200
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure,...	OMIM:616420
Fetal Valproate Spectrum Disorder	Epicanthus, Depressed nasal ridge, Short nose	ORPHA:1906
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Highly arched eyebrow, Multiple prenatal fractures, Bulbous nose, Wormian ...	OMIM:618644
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa...	OMIM:272460
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hooded eyelid, Proximal placement of thumb, Micrognathia, Limited elbow movement, Synophrys, Clin...	OMIM:610759
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o...	ORPHA:169802
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, Promi...	ORPHA:363611
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun...	ORPHA:1333
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelashes, Lacrimal duct atresia, 2-3 toe syn...	OMIM:106260
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
Warburg Micro Syndrome 3	Micrognathia, Blepharophimosis, Flexion contracture, Optic atrophy, Ankle clonus, Clinodactyly of...	OMIM:614222
Moderate Hemophilia A	Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Cartilage destruc...	ORPHA:169805
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ...	OMIM:250220
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri...	OMIM:616367
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Synophrys, Short nose, Ptosis	ORPHA:1913
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Upslanted palpebral fissure, Clinod...	OMIM:613443
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,...	ORPHA:83471
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Tricuspid regurgitation, Sandal gap, Delayed cranial suture closure, Elevated hemoglo...	OMIM:619127
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Endocarditis, Arthritis, ...	ORPHA:3099
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure	ORPHA:93950
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Peho Syndrome	Epicanthus, Tapered finger, Optic atrophy, Short nose, Retrognathia	OMIM:260565
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Thick nasal a...	OMIM:303600
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Delayed closure of...	ORPHA:2962
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslanted palpebral fissures, Sh...	OMIM:611936
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Infectious encephalitis, Short stature	ORPHA:847
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Ptosis, Anteverted nares, Depressed nasal bridge, Highly arched eyebro...	OMIM:615866
Castleman Disease	Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lym...	ORPHA:160
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
22Q11.2 Deletion Syndrome	Impaired T cell function, Micrognathia, Abnormal eyelid morphology, Hypoplasia of the thymus, Chr...	ORPHA:567
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption...	OMIM:614753
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, Antever...	OMIM:211380
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Pulmonary embol...	ORPHA:70591
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Synophrys, Tracheobronchomalacia, Anteverted nares, De...	OMIM:613458
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Elbow disloc...	ORPHA:2554
Overlap Myositis	Subluxation of the small joints of the hand, Raynaud phenomenon, Arthritis, Finger swelling, Hype...	ORPHA:206572
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Azoospermi...	OMIM:235200
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Synophrys, Wide nasal bridge, Hypoplasia of teeth, Upslanted palpeb...	OMIM:620250
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M...	OMIM:227330
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypopla...	ORPHA:306542
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl...	ORPHA:264450
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Tapered finger, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical ver...	OMIM:617159
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Joint hyperflexibility, Polydactyly, Downslanted palpebral...	ORPHA:77301
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Depressed nasal brid...	OMIM:620005
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Prominent fingertip pads, ...	OMIM:300558
Desmosterolosis	Increased bone mineral density, Epicanthus, Depressed nasal bridge, Micrognathia, Metatarsus addu...	ORPHA:35107
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement ...	OMIM:620370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hip dislocation, Short nose, Hepatosplenomegaly	OMIM:608776
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Epicanthus,...	OMIM:278250
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ...	OMIM:618892
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Short nos...	OMIM:618774
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, A...	ORPHA:3260
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Broad hallux, Anteverted nares, Depressed nasal bridge, Retinal pigment epithelial mo...	OMIM:614105
Adenylosuccinase Deficiency	Prominent metopic ridge, Anteverted nares, Short nose	OMIM:103050
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Wide nasal bridge, Lon...	OMIM:618529
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis,...	ORPHA:95699
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Clinoda...	OMIM:618087
Japanese Encephalitis	Meningitis, Infectious encephalitis	ORPHA:79139
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte...	OMIM:200600
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Cryptorchidism, Leukocytosis, Acu...	ORPHA:99812
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil...	ORPHA:228123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Meningitis, Recurrent pneumonia, Vasculitis, Recurren...	OMIM:617718
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor...	ORPHA:140
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Chorioretinal coloboma, Short nose, Retrognathia	ORPHA:163961
Zttk Syndrome	Aortic regurgitation, Broad eyebrow, Epicanthus, Depressed nasal bridge, Craniosynostosis, Hypopl...	OMIM:617140
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly...	ORPHA:2137
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Short tibia, Disloc...	OMIM:605274
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Leukocytosis, Dilated...	OMIM:615688
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Congenital hip dislocation, Telecanthus, Anteverted nares, Depress...	OMIM:244450
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Synophrys, Short palm, Clinodactyly of the 5th finger, F...	ORPHA:251014
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Sandal gap, Highly arched eyebrow, Pulmonary arterial hypertension, Short nose	OMIM:300887
Combined Immunodeficiency Due To Crac Channel Dysfunction	Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:169090
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Proximal placement of thumb, Microgna...	OMIM:610536
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale	OMIM:618652
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, Keratoconjunct...	ORPHA:91138
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Thin bony cortex	OMIM:230600
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Telecanthus, Prominent nasal bridge, Highly arched eyebrow, Tapered finger,...	OMIM:609460
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Waardenburg Syndrome Type 1	Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Sy...	ORPHA:894
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os...	OMIM:611490
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic...	OMIM:151210
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Postaxial polydactyly, Prominent nose, Sparse eyebrow, Squared il...	OMIM:616300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Macular degeneration, Clinodactyly of th...	OMIM:266920
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Papilledema, Depressed nasal bridge, Sclerotic scapulae, 2-3 f...	OMIM:269500
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Synophrys, Bulbous nose, Pulmonic stenosis, Chorioretina...	ORPHA:284169
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contracture, Hypopl...	ORPHA:1865
Frontorhiny	Ptosis, Epicanthus, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinus...	ORPHA:391474
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Upslanted ...	OMIM:615716
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Upslanted palpebral fissur...	OMIM:618437
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia, Reduced bone mineral density	ORPHA:2617
White-Sutton Syndrome	Mandibular prognathia, Joint laxity, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia...	OMIM:616364
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Depressed ...	ORPHA:2211
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormi...	OMIM:617821
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Hypertension, Inflammation of the large intestine, Xanthelasma,...	OMIM:232220
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische...	ORPHA:494424
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibril...	ORPHA:284984
Thyroid Lymphoma	Goiter, Dysphagia, Lymphadenopathy	ORPHA:97285
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal...	OMIM:612301
Autosomal Dominant Robinow Syndrome	Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Anteverte...	ORPHA:3107
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Cardiofaciocutaneous Syndrome	Epicanthus, Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Abnormal eyela...	ORPHA:1340
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Anteverted nares, Highly arched eyebrow, Prominent nose, Depressed nas...	OMIM:618316
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:278000
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, S...	OMIM:122880
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Wilson Disease	Thrombocytopenia, Splenomegaly, Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic...	ORPHA:905
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femoral epiphyseal ossification, Ly...	ORPHA:353298
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h...	ORPHA:740
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Abnormal eyelid morphology,...	OMIM:300855
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Vasculitis, Limitation...	ORPHA:343
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Micrognathia,...	OMIM:620369
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Meier-Gorlin Syndrome 6	Microretrognathia, Entropion, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdevelope...	OMIM:616835
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Autosomal Recessive Robinow Syndrome	Micrognathia, Chronic otitis media, Clinodactyly of the 5th finger, Synostosis of carpal bones, F...	ORPHA:1507
Lacrimoauriculodentodigital Syndrome	Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Abnormal dental enamel mo...	ORPHA:2363
Pterygium Colli, Isolated	Epicanthus, Short nose	OMIM:177990
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Abse...	ORPHA:861
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n...	ORPHA:163966
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia	OMIM:619423
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Ptosis, Joint stiffness, Hypopla...	ORPHA:2588
Trisomy 12P	Epicanthus, Micrognathia, Wide nasal bridge, Clinodactyly of the 5th finger, Malar flattening, Sh...	ORPHA:1699
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Infla...	ORPHA:98813
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Bradycardia, Ca...	OMIM:610015
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Glycogen Storage Disease Ia	Osteoporosis, Gout, Hypertension, Xanthelasma, Pancreatitis, Lipemia retinalis	OMIM:232200
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Autoinflammation With Infantile Enterocolitis	Skin rash, Short stature, Diffuse alveolar hemorrhage, Enterocolitis, Meningitis	OMIM:616050
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Nicolaides-Baraitser Syndrome	Enlarged joints, Short metatarsal, Prominent interphalangeal joints, Sparse medial eyebrow, Short...	OMIM:601358
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Raynaud phenomenon, Arthritis, Leukopenia, ...	ORPHA:93552
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micrognathia, Wide nasal bridge, Short long bone, Malar flattening, Pte...	OMIM:224410
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Anteverted nares, Joint stiffness, Micrognathia, Short nose, Ptosis	ORPHA:1915
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Overlapping toe, Bulbous nose, Wide nasal bridge, Narrow palpebral...	OMIM:618571
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl...	ORPHA:544503
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat...	OMIM:114290
Immunodeficiency 46	Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G...	ORPHA:33276
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Men...	ORPHA:37042
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone	OMIM:613804
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Up...	OMIM:617822
Adams-Oliver Syndrome 6	Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:616589
Peho Syndrome	Epicanthus, Palpebral edema, Anteverted nares, Tapered finger, Flexion contracture, Limitation of...	ORPHA:2836
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho...	ORPHA:2357
Rhyns Syndrome	Osteopenia, Ptosis, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Rod-cone dy...	OMIM:602152
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Singleton-Merten Syndrome 1	Osteopenia, Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, C...	OMIM:182250
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Abnormal bone ossification, Clinodactyly of the 5th fi...	ORPHA:79324
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Upslant...	OMIM:247200
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short...	OMIM:139210
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Reticulocytopenia, Triphalangeal thumb, Neutropenia, Spina b...	OMIM:105650
Lathosterolosis	Epicanthus, Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Acant...	OMIM:607330
Loeys-Dietz Syndrome 5	Arachnodactyly, Prominent nasal bridge, Eosinophilic infiltration of the esophagus, Osteoarthriti...	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge	OMIM:300676
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Epistaxis, Chronic neutropenia, Carious teeth, Osteoporosis, Enterocolitis, Gout, Inc...	ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Highly arched eyebrow, Micrognathia, Prominent nose, Bulbous n...	OMIM:156200
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Carious teeth, Small hand, Hypoplasia of the zygomatic bone...	ORPHA:1786
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint dislocation, Joint laxity, Tricuspid regurgitation, Arachnodactyly, Recu...	OMIM:601776
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Short palpebral fi...	OMIM:619714
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Recurrent upper respi...	ORPHA:293939
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Vasculitis, Joint swelling, Polyartic...	OMIM:180300
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Fatiga...	ORPHA:42
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Epicanthus, Camptodactyly of finger, Choa...	ORPHA:3380
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Hypopigmentation of the fundus, Microretro...	OMIM:200990
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	OMIM:614702
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Recurrent pharyngitis, Vasculitis...	ORPHA:397
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Tetrasomy 18P	Epicanthus, Syncope, Downslanted palpebral fissures, Short nose	ORPHA:3307
Cysticercosis	Abnormal myocardium morphology, Iridocyclitis, Infectious encephalitis	ORPHA:1560
Toluene Embryopathy	Epicanthus, Micrognathia, Tapered finger, Hypoplasia of the zygomatic bone, Short nose, Short pal...	ORPHA:1920
Wiedemann-Steiner Syndrome	Hyperextensibility at elbow, Epicanthus, Telecanthus, Thick eyebrow, Tapered finger, Synophrys, A...	ORPHA:319182
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemophilia B	Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage	OMIM:306900
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Hemophilia A	Osteoarthritis, Joint hemorrhage, Muscle hemorrhage	OMIM:306700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Anteverted nares, Optic atrophy, Hypoplasia of teeth, Keratoconjunc...	OMIM:234050
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Micrognathia, Bulbo...	OMIM:615656
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Narrow nose, Carious teeth, Long nose,...	OMIM:617602
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea	OMIM:235555
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Abnormal eyeli...	ORPHA:1812
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Otitis media, Shallow orbits, Telangiect...	ORPHA:576
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati...	ORPHA:239
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
Rapp-Hodgkin Syndrome	Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Depressed nasal bridge, Underdeveloped nas...	OMIM:129400
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B...	OMIM:619381
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Short nose	ORPHA:1389
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Irregular epiphyses, Short femor...	OMIM:313400
Dyskeratosis Congenita	Abnormal eyebrow morphology, Telangiectasia of the skin, Recurrent fractures, Abnormality of neut...	ORPHA:1775
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Epicanthus, Paranasal sinus hypoplasia, Arachnodactyly, Delayed closure of the anter...	OMIM:300373
19P13.13 Microdeletion Syndrome	Epicanthus, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Long fi...	ORPHA:357001
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Tapered finger, Intraventricular hemorrhage...	OMIM:613603
Thymic Neuroendocrine Tumor	Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ...	ORPHA:97289
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose	OMIM:612563
Xylt1-Cdg	Joint dislocation, Joint laxity, Acne, Coxa valga, Synophrys, Flared metaphysis, Short long bone,...	ORPHA:370930
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ptosis, Anteverted nares, Tracheomalacia, Micrognathia, Highly arched eyebrow, Congestive heart f...	ORPHA:444077
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Al-Raqad Syndrome	Joint laxity, Short nose, Sandal gap, Brachydactyly	OMIM:616459
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy...	OMIM:212140
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Gaucher Disease	Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur...	ORPHA:355
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Prominent nasal bridge, Proximal placement of thumb, Micrognath...	ORPHA:251071
Jacobsen Syndrome	Ptosis, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal...	OMIM:147791
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Wide anterior fontanel, Contracture of the proximal interphalangeal j...	ORPHA:457279
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate, Craniosynostosis	ORPHA:314575
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose	ORPHA:93945
Generalized Pustular Psoriasis	Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pust...	ORPHA:247353
Schinzel-Giedion Syndrome	Micrognathia, Tibial bowing, Choanal stenosis, Shallow orbits, Myeloid leukemia, Wide anterior fo...	ORPHA:798
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xanthelasma, Stomato...	OMIM:210250
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Dermotrichic Syndrome	Blepharophimosis, Short nose, Depressed nasal bridge, Anemia	ORPHA:99688
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec...	OMIM:300400
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Papilledema, Abnormal foveal morp...	ORPHA:217085
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Large posterior fontanelle, Depressed nasal bridge, Postaxial polydactyly, Micrognat...	OMIM:617925
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren...	ORPHA:565
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, H...	ORPHA:1449
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Pulmonary Arteriovenous Malformation	Brain abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangi...	ORPHA:2038
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacr...	OMIM:106300
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Optic neuropathy, Iridocyclitis, Splenomegaly, Bo...	OMIM:181000
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leuko...	OMIM:260920
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi...	ORPHA:2538
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Adiposis Dolorosa	Telangiectasia of the skin, Arthritis, Recurrent skin infections	ORPHA:36397
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Epicanthus, Tricuspid regurgitation, Telecanthus, Anteverted nares, Depressed nasal b...	OMIM:616894
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly	ORPHA:2414
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Arthritis	OMIM:619825
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Increased size of nasopharyngeal adenoids, Papilledema, Abnormal foveal morp...	ORPHA:217093
Melioidosis	Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of ...	ORPHA:31202
Toriello-Carey Syndrome	Telecanthus, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Short nose, Cardiomyopathy, Pu...	ORPHA:3338
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Epicanthus, Sandal gap, Depressed nasal bridge, Tapered finger, Bulbous nose, Clinodactyly of the...	OMIM:618430
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Wide nose, Abnormal foveal morphology, Splenome...	ORPHA:580
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Sy...	ORPHA:476126
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi...	OMIM:186580
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destructio...	ORPHA:29207
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Short metacarpal, Epicanthus, Anteverted nares, Eczema, Depressed nasal bridge, Broad nas...	OMIM:617157
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Chops Syndrome	Anteverted nares, Splenomegaly, Synophrys, Optic atrophy, Long eyelashes, Aspiration pneumonia, T...	OMIM:616368
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone...	OMIM:259050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Joint laxity, Anteverted nares, Depressed nasal bridge, Highly arched ey...	OMIM:619325
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto...	ORPHA:93672
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Delayed closure of...	ORPHA:2834
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Synophrys, Leukopenia, Iron deficiency anemia, Syndacty...	OMIM:619488
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Decreased circulating IgG level, Arachnodactyly, Depressed nasal bridg...	ORPHA:500150
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Telecanthus, Depressed nasal bridge, Wide nasal bridge	ORPHA:782
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat...	ORPHA:93315
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Meningitis, Recurrent sinusitis	OMIM:619707
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone	OMIM:618845
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o...	OMIM:239850
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Micrognathia, Joint laxity, Syndactyly, Depressed nasal bridge, S...	OMIM:613610
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae, Intestinal malrotation	ORPHA:3035
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Retinal detachment, Prominent metopic ridge, Tapered finger, Long fingers,...	ORPHA:521445
Developmental Delay With Or Without Dysmorphic Facies And Autism	Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Promin...	OMIM:618454
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Epicanthus, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, H...	ORPHA:285
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Depressed nasal bridge, Gout, Short nose, Downslanted palpebral fissures, Convex nasa...	OMIM:300661
Jacobsen Syndrome	Eyelid coloboma, Broad columella, Long hallux, Broad hallux phalanx, Finger syndactyly, Anteverte...	ORPHA:2308
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Clinodactyly of the 5th finger, Promi...	OMIM:615873
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Chorioretinal dysplasia, Micrognathia, Periodontitis, Chronic otitis media...	ORPHA:534
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Telangi...	ORPHA:420741
Macrocephaly/Autism Syndrome	Joint laxity, Epicanthus, Depressed nasal bridge, Splenomegaly, Decreased circulating antibody le...	OMIM:605309
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Menke-Hennekam Syndrome 1	Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, Clinodact...	OMIM:618332
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis	OMIM:232800
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine...	ORPHA:391428
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Congestive ...	ORPHA:90033
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis, Optic disc coloboma, Choanal atresia	ORPHA:92050
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Overlapping t...	OMIM:617402
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Clinodactyl...	ORPHA:251061
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Carey-Fineman-Ziter Syndrome	Brachydactyly, Epicanthus, Anteverted nares, Micrognathia, Ulnar deviation of finger, Short nose,...	ORPHA:1358
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections...	ORPHA:70593
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Advanced eruption of teeth, Short nose, Broad colu...	OMIM:617865
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Ganglioneuroblastoma, Recurrent upper respiratory tract infections, Delayed pubert...	ORPHA:293987
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Left ventricular hyp...	OMIM:617713
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Anteverted nares, Decreased heart rate variability, Highly ar...	OMIM:619005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hematochez...	OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Silver-Russell Syndrome	Sandal gap, Micrognathia, Abnormal appendicular skeleton morphology, Abnormality of the calcaneus...	ORPHA:813
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Micro Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Joint stiffness, Micrognathia, Optic atrop...	ORPHA:2510
H Syndrome	Microcytic anemia, Malabsorption, Osteolysis, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, H...	ORPHA:168569
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Blepharophimosis, Underdeveloped nasal alae, Chorioretinal coloboma, Clinodacty...	ORPHA:2031
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Epicanthus, Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Broa...	OMIM:300749
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge,...	ORPHA:1974
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rickets, Sta...	OMIM:268315
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, Abnormal tibia morpho...	ORPHA:2879
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227990
Fontaine Progeroid Syndrome	Mandibular prognathia, Syndactyly, Tricuspid regurgitation, Depressed nasal bridge, Short palpebr...	OMIM:612289
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Lymphadenopathy	ORPHA:2483
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoax...	OMIM:146510
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Hepatit...	ORPHA:2331
Spondyloocular Syndrome	Long toe, Osteopenia, Retinal detachment, Overlapping toe, Arachnodactyly, Femur fracture, Long f...	OMIM:605822
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, 1-2 toe syndactyly, Broad hallux, Highly arched eyebrow, Tapered finger, Antev...	OMIM:301044
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Orthostatic hypotension, Epicanthus, Phal...	ORPHA:287
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Ectropion, Sparse eyelashes, Antev...	OMIM:209885
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Tapered finger, Underdeveloped nasal alae, Synophrys, Bulbous nose, Wide n...	OMIM:615803
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Tracheomalacia, Highly arched...	ORPHA:261494
Tetrasomy 9P	Joint dislocation, Myositis, Hypoplastic scapulae, Pericarditis, Abnormal dental enamel morpholog...	ORPHA:3310
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Gen...	OMIM:615630
Monosomy 9P	Epicanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	ORPHA:261112
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Polydactyly, Compl...	ORPHA:59315
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Telecanthus, Wide nasal bridge	OMIM:601499
Cog1-Cdg	Osteopenia, Micrognathia, Coxa valga, Wide nasal bridge, Flat acetabular roof, Hepatosplenomegaly...	ORPHA:263508
Jaberi-Elahi Syndrome	Sparse eyelashes, Depressed nasal bridge, Joint stiffness, Sparse eyebrow, Optic atrophy, Short n...	OMIM:617988
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Camptoda...	ORPHA:1101
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst...	ORPHA:488618
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Optic atrophy, Micrognathia	OMIM:256600
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227982
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy	OMIM:616028
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regur...	ORPHA:505248
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph...	ORPHA:1572
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Recurrent pneumonia, Prominent eyelashes, Wide nasal bridge, Upslanted pa...	OMIM:619179
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fractu...	OMIM:620366
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth...	ORPHA:822
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short mid...	OMIM:136140
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Clinodactyly of the 5th f...	ORPHA:373
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Shallow orbits, ...	OMIM:601353
9q subtelomeric deletion syndrome	Synophrys, Anteverted nares, Short nose	DECIPHER:52
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo...	ORPHA:3003
Peters-Plus Syndrome	Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limited elbow movement, Sho...	OMIM:261540
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed ...	ORPHA:920
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Abnormal cardiac ventricular function, Wide anterior fontanel, Congestive heart fai...	ORPHA:90349
Papillorenal Syndrome	Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o...	OMIM:120330
Meckel Syndrome, Type 8	Depressed nasal ridge, Short nose, Polydactyly	OMIM:613885
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdev...	OMIM:300912
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Gout	OMIM:618061
Frontofacionasal Dysplasia	Telecanthus, Underdeveloped nasal alae, Short nose, Ankyloblepharon, Eyelid coloboma, Midline def...	OMIM:229400
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative...	ORPHA:48435
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
16P13.11 Microdeletion Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Metatarsus valgus, Short nose,...	ORPHA:261236
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Congestive heart failure, Splenomegaly, Upslanted palpebral fissure, Ove...	OMIM:608779
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Epicanthus, Anteverted nares, Depressed nasal bridge, Coxa valga, Tapered ...	OMIM:301040
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Synophrys, Long toe, Anteverted nares, Lagophthalmos, 2-3 toe ...	ORPHA:3455
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Mosaic Variegated Aneuploidy Syndrome 1	Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Upslanted palpebra...	OMIM:257300
Blau Syndrome	Large vessel vasculitis, Posterior uveitis, Abnormal optic nerve morphology, Retrobulbar optic ne...	ORPHA:90340
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Chorioretinitis, Ir...	OMIM:109650
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen...	OMIM:610199
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Cone/cone-rod dystrophy, Short metacarpal, Bowing of the long bones, Retinal atr...	ORPHA:85167
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso...	ORPHA:33226
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly	OMIM:255120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno...	ORPHA:264580
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiv...	ORPHA:3339
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Muir-Torre Syndrome	Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A...	ORPHA:587
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Underdeveloped nasolabial fold, Overlapping toe, Anteverted nares, Micrognat...	ORPHA:177907
Deeah Syndrome	Prominent nasal tip, Decreased hemoglobin concentration, Epicanthus, Decreased heart rate variabi...	OMIM:619004
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Epicanthus, Postaxial polydactyly, Fl...	OMIM:614091
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Limitation o...	ORPHA:2719
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Aortic regurgitation, Ptosis, Genu recurvatum, Congestive heart failure...	ORPHA:90348
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, 2-3 toe syndactyly, Heart mur...	OMIM:618653
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Wide nose, Camptodactyly of finger, Choanal atresia, Microg...	ORPHA:2753
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate...	ORPHA:581
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Anteverted nares, Depressed nasa...	OMIM:312870
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hematemesis...	OMIM:615846
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain dicarboxylic acidur...	OMIM:608836
Yunis-Varon Syndrome	Congenital hip dislocation, Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, ...	OMIM:216340
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade...	ORPHA:139411
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Restrictive Dermopathy	Osteopenia, Natal tooth, Telecanthus, Multiple joint contractures, Entropion, Camptodactyly of fi...	ORPHA:1662
Familial Mediterranean Fever	Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Gast...	ORPHA:342
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Splenomegal...	ORPHA:50918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Okamoto Syndrome	Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Spl...	ORPHA:2729
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Hypogon...	ORPHA:2905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c...	OMIM:201475
Acromegaly	Mandibular prognathia, Broad jaw, Wide nose, Acne, Macrodactyly, Palpebral edema, Tapered finger,...	ORPHA:963
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Osteolysis...	ORPHA:464329
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Splenomegaly, Pyloric stenosis, Ileus, Osteoporosis, Dysphagia, Hepatic...	OMIM:613327
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Flexion contracture, Telangiectasia, Keratoconjunctivitis sicca,...	OMIM:601675
Coffin-Siris Syndrome	Delayed eruption of teeth, Joint laxity, Anteverted nares, Depressed nasal bridge, Broad nasal ti...	ORPHA:1465
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Thrombocytopenia, Atypical or prolonged hepa...	OMIM:277900
Gaucher Disease, Perinatal Lethal	Anteverted nares, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatospl...	OMIM:608013
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Underdeveloped nasal alae, Abnormal nostril m...	ORPHA:2315
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly	ORPHA:349
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration	OMIM:619656
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:363705
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly	ORPHA:99931
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Broad nasal tip, Cherry red spot of the macula, Hepatosplenomegaly, Cardi...	ORPHA:79255
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Marburg Hemorrhagic Fever	Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage,...	ORPHA:99826
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Depressed nasal bridge, Optic nerve hypoplasia, Delayed proximal femo...	ORPHA:226307
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Sparse eyelashes, Eczema, Depressed nasal bridge, Underdeveloped nasal alae, Hypo...	OMIM:305100
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia...	ORPHA:521426
Witteveen-Kolk Syndrome	Proximal placement of thumb, Intracranial hemorrhage, Short palm, Clinodactyly of the 5th finger,...	OMIM:613406
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Infla...	ORPHA:238468
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri...	OMIM:616430
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed nasal bridge, Bifid distal phal...	ORPHA:97360
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Anteverted ...	ORPHA:199
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Arthritis, ...	ORPHA:536
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Angina pectoris, Anteverted nares, Hashimoto thyroiditis, Micrognathia, Telangiectasia...	ORPHA:109
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
C Syndrome	Joint dislocation, Epicanthus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Microgna...	ORPHA:1308
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Wide nose, Palpebral edema, Macrodactyly, Tapered finger, Osteo...	ORPHA:314769
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Flexion contracture, Optic atrophy, Short nose, Clinodac...	OMIM:614225
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar...	ORPHA:97214
Glycogen Storage Disease Ic	Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Recurrent upper respiratory tract in...	OMIM:232240
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud ...	ORPHA:51
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy, Reduced bone mineral density	OMIM:620232
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Floating-Harbor Syndrome	Narrow nasal bridge, Short metacarpal, Brachydactyly, Enlarged joints, Persistence of primary tee...	ORPHA:2044
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad...	ORPHA:512
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Carcinoid Syndrome	Small intestine carcinoid, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Hepatic n...	ORPHA:100093
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic...	OMIM:619503
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Clinodactyly of the ...	OMIM:619859
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va...	ORPHA:2035
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Marfan Syndrome	Osteopenia, Retinal detachment, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limite...	ORPHA:558
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Distal Deletion 9P	Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, Short nose, Brachydactyly	ORPHA:1642
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Leukocytosis, Flexion contractur...	OMIM:619321
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Abnormal optic chiasm morphology, Aortic regurgitation, Retinal detachment, Promin...	ORPHA:268261
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ...	ORPHA:567983
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Hepatitis, Rheumatoid arth...	ORPHA:589
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Cleft Velum	Hypoplasia of the maxilla, Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Clinodactyly of the 5th finger, P...	ORPHA:65286
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Optic atrophy, Contracture...	OMIM:617527
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Periostitis, Osteolysis	OMIM:612852
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Hennekam Syndrome	Lymphopenia, Craniosynostosis, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymphangi...	ORPHA:2136
Multiple Myeloma	Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ...	ORPHA:29073
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Loeys-Dietz Syndrome 3	Joint laxity, Atrial fibrillation, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinop...	OMIM:613795
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Decreased ci...	OMIM:158350
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Optic atrophy, Cardiomegaly	OMIM:619259
Marfan Syndrome	Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Arachnodactyly, Protrusio acet...	OMIM:154700
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Recurrent herpes, Lymphoproliferative disorder, Eczema, Epistaxis, H...	OMIM:301000
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Portal vein thromb...	ORPHA:729
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E...	ORPHA:449432
Geleophysic Dysplasia 2	Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short f...	OMIM:614185
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Developmental glaucoma, Osteop...	OMIM:245600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Epicanthus, Proportionate shortening of all digits, Anteverted nares, Tapered ...	ORPHA:280633
Cadds	Short nose, Cholangitis, Micrognathia	ORPHA:369942
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Functional intestinal obstruction, Chronic noninfectious lymphadenopathy, Mechanica...	ORPHA:100079
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Medial flaring of ...	OMIM:194050
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal ilium morphology, Sh...	OMIM:614080
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Decreased circulating antibody level, Joint ...	ORPHA:96129
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ptosis, Epicanthus, Micrognat...	OMIM:163950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Epicanthus, Progressive flexion contractures, Abnormal location of the eyebrow, Equ...	ORPHA:522077
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Dysbetalipoproteinemia	Xanthelasma, Acute pancreatitis, Angina pectoris, Gout	ORPHA:412
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenoc...	ORPHA:171
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Left ventricular hyper...	ORPHA:57777
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Long palpe...	OMIM:614207
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Femoral bowing, Short long bone, Hypoplasia of the thymus, Overlapping ...	OMIM:617022
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Toe syndactyly, Sparse eyelashes, Abnormal nasopharynx morphology, Choanal atresia, ...	OMIM:129900
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Joint laxity, Epicanthus, Telecanthus, Sandal gap, Eczema, Optic nerve hyp...	OMIM:620330
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pigmentation, Block vert...	ORPHA:50
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Splenomegaly, Postaxial hand polydacty...	OMIM:617088
Williams Syndrome	Osteopenia, Myocardial infarction, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis m...	ORPHA:904
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Raynaud phenomenon, Clubbing, Bronchiectasis, Keratoconjunctivitis sicca, Pulm...	ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Cowden Syndrome 5	Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Micrognathia	OMIM:615108
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Meningitis, Peritonitis, Systemic lupu...	ORPHA:1546
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Portal hypertension, Rickets, Reduced bone mineral densit...	OMIM:613658
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Spina bifida occulta, Upslanted palpebral fissure, Short middle phalanx o...	OMIM:301030
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Choana...	OMIM:604292
Plague	Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Abnormality of...	ORPHA:707
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Otitis media, Chorioretinal coloboma, Joint laxity, Anteverted nares, Wide nasal bridg...	OMIM:619475
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Prominent nasal bridge, Highly arched eyebrow, Short toe, Short nose, ...	ORPHA:1519
Cerebrofaciothoracic Dysplasia	Epicanthus, Wide nose, Synophrys, Short nose, Downslanted palpebral fissures, Thick eyebrow	ORPHA:1394
Congenital Tracheal Stenosis	Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ...	ORPHA:141127
Cowden Syndrome 6	Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Micrognathia	OMIM:615109
Malakoplakia	Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon	ORPHA:556
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Joint s...	ORPHA:1606
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Highly arched eyebrow, Synophrys, Aortic valve stenosis, ...	ORPHA:96147
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst...	ORPHA:137675
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Synophrys, Absent nasal septal cartilage, Wide nas...	OMIM:610828
Pallister-Hall Syndrome	Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,...	ORPHA:672
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Idiopathic Camptocormia	Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis	ORPHA:1320
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem...	ORPHA:90041
Cantú Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly	ORPHA:1517
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Ane...	ORPHA:642
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal pla...	OMIM:304050
Microlissencephaly-Micromelia Syndrome	Short nose, Palpebral edema, Adducted thumb	ORPHA:50810
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Flexion contracture, Wide n...	OMIM:619479
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Epicanthus, Aplasia of the nasal bone, Joint stiffness, Micrognathia, Short nose, Ups...	OMIM:618820
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Gout, Tubulointerstitial nephritis, Hypertension, Hypotension, Anemia	OMIM:174000
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot...	ORPHA:2968
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Pulmonary arterial hype...	ORPHA:2282
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Upslanted palpebral fissure, Short nose, Joint hypermobility	ORPHA:293948
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Increased fecal c...	OMIM:263700
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Pyloric stenosis, Hypoplasia of...	OMIM:618419
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric...	ORPHA:79330
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib...	ORPHA:449395
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Medulloblastoma	Cerebellar hemorrhage, Delayed cranial suture closure	ORPHA:616
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Sepsis In Premature Infants	Tachycardia, Disseminated viral infection, Severe infection, Enterocolitis, Bradycardia, Hypotens...	ORPHA:90051
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Arthritis, Joint hyperflexibility	ORPHA:93111
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis	OMIM:614921
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:105830
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena	ORPHA:100082
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, Fingerp...	OMIM:600376
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Epicanthus, Telecanthus, Anteverted nares, Tapered finger, Carious teeth, Short thumb,...	OMIM:619522
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ...	ORPHA:2298
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Gastroesophageal reflux, Hi...	OMIM:620233
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel...	OMIM:620185
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus, Gastro...	OMIM:613177
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Pancreatic isle...	OMIM:276700
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Abnormal bone ossification	ORPHA:2463
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Rheum...	ORPHA:98808
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Narrow nasal bridge, Telecanthus, Congenital hip dislocation, Telangiectasia o...	ORPHA:286
Adenohypophysitis	Antinuclear antibody positivity, Orthostatic hypotension, Chronic lymphocytic meningitis, Hashimo...	ORPHA:95512
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt...	ORPHA:167
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Bulbous nose,...	OMIM:614437
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Pallister-Killian Syndrome	Congenital hip dislocation, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5th fingers, ...	OMIM:601803
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose	ORPHA:280200
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Hypertensive crisis, Brain abscess, Pneumonia, Myocarditis, Leukocytosis, Throm...	ORPHA:544482
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol...	OMIM:230000
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pressure, Ventricular fibril...	ORPHA:358
Panhypophysitis	Antinuclear antibody positivity, Orthostatic hypotension, Chronic lymphocytic meningitis, Hashimo...	ORPHA:95513
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Abnormal morphology of female i...	ORPHA:538
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Osteoporosis, Oligosacchariduria, Fatigable weakness of respiratory m...	ORPHA:365
Branchiooculofacial Syndrome	Telecanthus, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, Broad nasal tip, ...	OMIM:113620
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Acute Transverse Myelitis	Orthostatic hypotension, Invasive parasitic infection, Autoimmunity, Subarachnoid hemorrhage, Sev...	ORPHA:139417
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Hypoplasia of the m...	OMIM:610829
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hematemesis, Melena, Iron deficiency anemia,...	ORPHA:100075
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Lymphadenopathy, Oste...	ORPHA:667
17Q11 Microdeletion Syndrome	Osteopenia, Telangiectasia of the skin, Depressed nasal bridge, Bowing of the legs, Retinal vascu...	ORPHA:97685
Microphthalmia, Syndromic 2	Retinal detachment, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular sys...	OMIM:300166
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Hydranencephaly	Postnatal growth retardation, Dilatation of the ventricular cavity, Intrauterine growth retardati...	ORPHA:2177
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophili...	ORPHA:797
Sheehan Syndrome	Orthostatic hypotension, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Palpita...	ORPHA:91355
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Abetalipoproteinemia	Osteopenia, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjunctivitis...	ORPHA:14
Leptospirosis	Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh...	ORPHA:509
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Lar...	ORPHA:49041
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou...	OMIM:187300
Progressive Multifocal Leukoencephalopathy	Meningitis, Hematological neoplasm	ORPHA:217260
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Narrow nasal ridge, Large fontanelles, Hypertension, Pigmentary retinopa...	OMIM:606721
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ...	ORPHA:99827
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm...	ORPHA:99889
Angiostrongyliasis	Unusual CNS infection, Meningitis	ORPHA:74
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis...	OMIM:613471
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlargement of p...	ORPHA:79078
Choreoacanthocytosis	Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly...	ORPHA:2388
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep...	OMIM:612132
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retention	ORPHA:97297
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymphadenopathy, P...	ORPHA:653
Arachnoiditis	Meningitis	ORPHA:137817
Tick-Borne Encephalitis	Unusual CNS infection, Abnormal myocardium morphology, Meningitis, Myelitis	ORPHA:297
Knobloch Syndrome	Lymphangioma, Pyloric stenosis	ORPHA:1571
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthr...	ORPHA:99921
Peters Plus Syndrome	Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Short toe, Optic atrophy,...	ORPHA:709
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Trichinellosis	Skin rash, Meningitis, Conjunctivitis, Retinal hemorrhage	ORPHA:863
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Telangiectasia, Pigmentary retinopathy, Juvenile rh...	OMIM:266270
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly	ORPHA:91387
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Partial duplication o...	OMIM:164210
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Lymphadenop...	OMIM:256040
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se...	ORPHA:1359
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Cardiomegaly, Pericardial effusion, Ret...	ORPHA:51608
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Pyloric...	OMIM:181450
Pituitary Dermoid And Epidermoid Cysts	Meningitis, Neoplasm of the anterior pituitary	ORPHA:91351
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple...	OMIM:619991
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia	ORPHA:158684
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma, Single ventricle	OMIM:157170
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level	ORPHA:3385
Sacral Defect With Anterior Meningocele	Sacral lipoma, Meningitis	OMIM:600145
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Tooth - MPATH pathological process term developmental dysplasia	Mmp2^em1(IMPC)Mbp	HOM		Late adult

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 Mmp2.

No publications found that use IMPC mice or data for Mmp2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Mmp2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Mmp2 MGI:97009

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Mmp2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data