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Gene: Cyp26b1 MGI:2176159

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cytochrome P450, family 26, subfamily b, polypeptide 1

Synonyms:

CP26, P450RAI-2, retinoic acid B1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cyp26b1 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 Cyp26b1 (1 diseases)
Human diseases predicted to be associated with Cyp26b1 (729 diseases)

The table below shows human diseases associated to Cyp26b1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies		Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416

The table below shows human diseases predicted to be associated to Cyp26b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis	OMIM:146750
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:613000
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis	ORPHA:735
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars...	ORPHA:505
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis	OMIM:101850
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Dermatoleukodystrophy	Hyperkeratosis	ORPHA:1659
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Micro...	ORPHA:2756
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617574
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Nail dystrophy	ORPHA:79503
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:615598
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Death in infancy, Micr...	ORPHA:166272
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Abnormal dental enamel morphol...	ORPHA:3258
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb un...	ORPHA:1423
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond...	OMIM:256050
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis	ORPHA:69125
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Micrognathia, 2-3 toe syndactyly, Upslanted palpebral fissure, Short 5th finger, Long eyelashes, ...	OMIM:618608
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Hip dislocation, Cutaneous syndactyly of toes, Hammer...	OMIM:158300
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Almond-shaped palpebral fissure, Frontal encephalocele, Abnormality of t...	ORPHA:521308
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Acromegaloid Facial Appearance Syndrome	Telecanthus, Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands, Blephar...	OMIM:102150
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia...	ORPHA:1240
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of radial epiphyses, Arthralgia of the hip...	ORPHA:166002
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:617571
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Hypertrichosis Cubiti	Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid morphology, Abno...	ORPHA:2220
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydac...	OMIM:617102
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Pseudoachondroplasia	Metaphyseal widening, Delayed epiphyseal ossification, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Odontochondrodysplasia 1	Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Death in infanc...	OMIM:184260
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Broad eyebrow, Epicanthus, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Small hand, U...	OMIM:617755
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u...	OMIM:118651
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol...	ORPHA:2631
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis	ORPHA:79399
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Patent d...	OMIM:618961
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Micrognathia, Temporomandibular joint ankylosis, Dental malocclusion...	OMIM:614669
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica...	OMIM:300244
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Epicanthus, Micrognathia, Split hand, Congenital...	OMIM:157900
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Mandibular aplasia, Retrognathia	ORPHA:1832
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Micrognathia	OMIM:300934
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly, Hypogonadism, External genital hypoplasia	OMIM:615993
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Short foot, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Umbilical hernia, Retrog...	OMIM:619758
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Acrocephalopolydactyly	Limb undergrowth, Epicanthus, Short long bone, Brachydactyly	ORPHA:221054
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly,...	OMIM:616809
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Patent ductus arteriosus,...	ORPHA:1597
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic ...	OMIM:263650
Perching Syndrome	Respiratory distress, Camptodactyly	OMIM:617055
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu ...	OMIM:614078
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc...	ORPHA:1143
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplast...	OMIM:151210
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met...	ORPHA:1278
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening	OMIM:183700
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Ab...	ORPHA:177
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Respiratory in...	OMIM:187601
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Kniest Dysplasia	Respiratory distress, Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Del...	OMIM:156550
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi...	OMIM:300219
Whistling Face Syndrome, Recessive Form	Epicanthus, Telecanthus, Shoulder flexion contracture, Micrognathia, Trismus, Elbow flexion contr...	OMIM:277720
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Small scrotum, Cryptorchidism, Death in childhood, Micropenis	OMIM:615597
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Lymphadenopathy, Hyperkeratosis	ORPHA:2584
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Nail dystrophy	OMIM:212360
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Respiratory insufficiency, Postaxial foot...	ORPHA:474
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Temporomandibular joint ankylosis, Lateral humeral ...	OMIM:164900
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Retrognat...	OMIM:165590
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Acquired Ichthyosis	Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections	ORPHA:454
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Epicanthus, Long palm, Arachnodactyly, Missing ribs, Dyspnea, Respiratory f...	ORPHA:2759
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Micrognathia, Dysp...	ORPHA:2707
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Pentasomy X	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Upslante...	ORPHA:11
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of...	ORPHA:90368
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Nail dystrophy, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeyco...	OMIM:601952
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Ptosis, Telecanthus, Neonatal respiratory distress, Proximal pl...	OMIM:217980
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Umbilical hernia, Short ribs...	OMIM:600972
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c...	OMIM:613684
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Micrognathia, Patent ductus arteriosus, Small hand, Upper limb ...	OMIM:608799
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy	OMIM:175900
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca...	ORPHA:93329
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst...	ORPHA:166113
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Telecanthus, Apnea, Micrognathia, Recurrent pneumonia, Pol...	ORPHA:314655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili...	ORPHA:922
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Succinic Acidemia	Respiratory distress	OMIM:600335
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, Dyspnea, Hypoplasia of the radius, Abnormality of...	ORPHA:3015
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow...	ORPHA:628
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Porokeratosis 7, Multiple Types	Parakeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis	OMIM:175800
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderm...	OMIM:148700
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Achondroplasia	Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Wide a...	ORPHA:15
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy	OMIM:607936
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M...	ORPHA:1865
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ...	OMIM:269250
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Micropenis, Small scrotum	ORPHA:370924
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Encephalocel...	OMIM:108720
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatarsal, Eruptio...	OMIM:166250
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Leukonychia	OMIM:617525
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Respiratory insuffic...	OMIM:224410
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Bronchospasm, Short...	OMIM:612813
Achondroplasia	Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bo...	OMIM:100800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Proximal placement of thumb, Micrognathia, Preaxia...	OMIM:610536
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, W...	OMIM:615821
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Diaphanospondylodysostosis	Respiratory distress, Narrow pelvis bone, Myelomeningocele, Missing ribs	ORPHA:66637
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial ha...	OMIM:241800
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Pachyonychia Congenita 1	Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Micrognathia, Long eyelashes, Spina bifida occulta, Thick eyebrow	ORPHA:1514
Acromesomelic Dysplasia 4	Mandibular prognathia, Synophrys, Short metatarsal, Short phalanx of finger, Genu varum, Short me...	OMIM:619636
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Neonatal respiratory distress, Monkey wrench femoral neck, M...	OMIM:618870
Osteogenesis Imperfecta, Type X	Respiratory distress, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia...	OMIM:613848
C Syndrome	Short metacarpal, Toe syndactyly, Epicanthus, Micromelia, Micrognathia, Postaxial hand polydactyl...	OMIM:211750
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal ...	OMIM:224400
Pityriasis Rubra Pilaris	Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma	OMIM:173200
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Umbilical hernia, Downslanted palpebral fiss...	ORPHA:1035
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Palpebral edema, Micromelia, Adducted thumb, Bilateral si...	ORPHA:50810
Thrombocytopenia, Paris-Trousseau Type	Ptosis, Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Short finger, Ectropion	OMIM:242500
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Alopecia, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Hype...	ORPHA:79395
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Limb-Mammary Syndrome	Syndactyly, Absent lacrimal punctum, Toe syndactyly, Chronic irritative conjunctivitis, Sparse ey...	ORPHA:69085
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis	OMIM:148600
Mesomelia-Synostoses Syndrome	Microretrognathia, Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, ...	OMIM:600383
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelid...	ORPHA:1794
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Neonatal respiratory distres...	ORPHA:168549
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb under...	ORPHA:453510
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia	OMIM:615042
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Respiratory distress, Adducted thumb	ORPHA:89844
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat...	OMIM:602400
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Tetrasomy 5P	Respiratory distress, Epicanthus, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide...	ORPHA:3309
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism...	ORPHA:97285
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Hypopl...	ORPHA:93307
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi...	OMIM:617866
Kagami-Ogata Syndrome	Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Blepharophimosis, Patent ductu...	OMIM:608149
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S...	OMIM:171480
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Edema, Acantholysis	ORPHA:455
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Respiratory insuffici...	ORPHA:2655
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre...	ORPHA:254875
Fetal Akinesia Deformation Sequence 3	Overlapping fingers, Downslanted palpebral fissures, Rocker bottom foot, Micrognathia	OMIM:618389
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Abnormal dental enamel morphology, Abnormal epiphysis morp...	ORPHA:2107
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N...	ORPHA:79151
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, Shor...	ORPHA:2751
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis	ORPHA:254478
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasia, Coxa vara, ...	OMIM:602557
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of ...	ORPHA:3121
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Abnormal respiratory system physiology, Mesomelia, Broad thumb...	ORPHA:171866
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac...	ORPHA:141083
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Acrofrontofacionasal Dysostosis	Ptosis, Camptodactyly of finger, Micromelia, Eyelid coloboma, Abnormal epiphysis morphology, Shor...	ORPHA:1784
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Malar flattening, Brachydactyly	ORPHA:2145
Cole Disease	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma	OMIM:615522
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Epicanthus, Telecanthus, Spontaneous neonatal pneumothorax, Micrognathia, Wide anterior fontanel,...	OMIM:225410
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing...	OMIM:224690
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou...	OMIM:236500
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral b...	OMIM:616482
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abnor...	ORPHA:2635
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis	OMIM:613943
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Cardiorespiratory...	ORPHA:93296
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Talipes equinovarus	OMIM:620011
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Choanal Atresia	Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A...	ORPHA:137914
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Patent duct...	OMIM:607143
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Blepharophimosis, Hypoplastic ilia...	ORPHA:93333
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis...	OMIM:602471
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Respiratory distress, Hooded eyelid, Sandal gap, Sparse eyelashes,...	OMIM:612863
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ...	ORPHA:79127
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Tukel Syndrome	Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap...	OMIM:609428
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Hypoplastic facial bones, Overtubulated long bones, Shor...	OMIM:619793
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio...	OMIM:114290
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognathia, Flat ca...	OMIM:147891
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Synophrys, Small hand, Short foot, Long eyelashes, Short palm, Ptosis	ORPHA:238750
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne...	ORPHA:36238
Chitayat Syndrome	Hallux valgus, Respiratory distress, Tracheomalacia, Brachydactyly	OMIM:617180
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse...	OMIM:119600
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia...	ORPHA:1427
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact...	OMIM:619143
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h...	ORPHA:1190
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Elbow flexion...	ORPHA:1145
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Ta...	ORPHA:435638
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger,...	ORPHA:199
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea, Micrognathia, Shallow orbits, Downslanted palpebral fissures	ORPHA:1129
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Epicanthus	OMIM:614741
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Apnea, Micromelia, Camptodactyly, Neonatal death	OMIM:610015
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Micrognathia	ORPHA:261304
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:604777
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Epicanthus, Micromelia, Postaxial pol...	OMIM:614091
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis	OMIM:620014
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat...	ORPHA:98915
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short foot, Talipes equinovarus, Umbilical hernia	ORPHA:93298
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress	OMIM:160900
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Epicanthus, Encephaloc...	ORPHA:1908
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Epicanthus, Postaxial hand polydactyly, Patent ductus arteriosus, Short rib...	ORPHA:2519
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared meta...	OMIM:616897
Achondrogenesis Type 1A	Micromelia, Micrognathia, Short foot, Short palm, Umbilical hernia	ORPHA:93299
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Anaplastic thyroid carcinoma, C...	ORPHA:142
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Lichen Planopilaris	Pruritus, Hyperkeratosis, Alopecia	ORPHA:525
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis	OMIM:612281
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t...	OMIM:613390
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Erythroderma	OMIM:615023
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As...	ORPHA:70588
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis	OMIM:613561
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Dyspnea, Clubbing, Restrictive ventilatory defect, ...	OMIM:619611
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Respiratory in...	ORPHA:2021
Diaphanospondylodysostosis	Respiratory distress, Epicanthus, Missing ribs, Micrognathia, Respiratory insufficiency, Narrow p...	OMIM:608022
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared metaphysis, Upp...	ORPHA:93352
Malaria	Respiratory distress	ORPHA:673
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge...	OMIM:618529
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation...	OMIM:183900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Epicanthus, Telecanthus, Overlapping toe, Upslanted palpebral fissure, Over...	OMIM:619383
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Telecanthus, Micromelia, Abnormal shoulder morphology, Abnorm...	ORPHA:1422
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Epicanthus, Telecanthus, Metaphyseal widening, Synophrys, Clubbing, Recurre...	OMIM:617303
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Micrognathia, Wide anterior font...	OMIM:619135
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Epicanthus, Micrognathia, Sparse eyebrow, Downslanted palpebral fissures	OMIM:606164
Pallister-Hall Syndrome	Microretrognathia, Mesoaxial polydactyly, Radial bowing, Patent ductus arteriosus, Respiratory in...	ORPHA:672
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Adducted ...	OMIM:619334
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Achondrogenesis	Umbilical hernia, Micromelia, Micrognathia	ORPHA:932
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follic...	OMIM:616295
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Respiratory insufficiency	OMIM:601612
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie...	OMIM:215140
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:2596
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Micrognathia, Dental malocclusi...	ORPHA:137888
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Patent ductus arteriosus, Respiratory insufficiency, Abnormal metaphys...	ORPHA:93274
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydacty...	OMIM:258860
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short toe, Patent ductus arter...	OMIM:269860
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot	OMIM:271225
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Wide anterio...	ORPHA:85184
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalang...	ORPHA:544503
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Upper eyelid colob...	OMIM:616462
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Hy...	OMIM:614800
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Mednik Syndrome	Hyperkeratosis	ORPHA:171851
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Mandibular aplasia, Downslanted palpebral fis...	OMIM:202650
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory...	OMIM:265120
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Highly arched eyebrow, Sparse eyebrow, Upslanted palpebral fissure, Talipes eq...	OMIM:619124
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Respiratory insufficiency, Tibial bowing, Abnormal pelvic ...	OMIM:166210
Pycnodysostosis	Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathia, Hypoplasti...	ORPHA:763
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Primary Pulmonary Hypoplasia	Epicanthus, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, ...	ORPHA:2257
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction, Micrognathia	OMIM:612776
Mohr Syndrome	Syndactyly, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Post...	OMIM:252100
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Stillbirth, Short ribs, Metaphyseal cupp...	OMIM:241500
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Dy...	OMIM:211530
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Dental malocclusion, Partial d...	OMIM:616331
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Epicanthus, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerar...	OMIM:617088
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Episodic Ataxia Type 1	Hand clenching, Respiratory distress	ORPHA:37612
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,...	ORPHA:3035
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necros...	ORPHA:3342
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Limited elbow exte...	OMIM:618019
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical h...	ORPHA:226313
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Shwachman-Diamond Syndrome 1	Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Metaphyseal sclerosis, ...	OMIM:260400
Camptodactyly Syndrome, Guadalajara Type 3	Thick eyebrow, Telecanthus, Symblepharon, Small hand, Retrognathia, Short foot, Spina bifida occu...	ORPHA:488434
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Allergic rhinitis, Asthma, Patent ductus arteriosus, 2-...	OMIM:618162
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Metaphyseal widening, Osteopathia striata, Delay...	ORPHA:93357
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy	OMIM:601163
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Irida Syndrome	Hyperkeratosis	ORPHA:209981
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Patent ductus arteriosus, Coxa vara, Narrow pelvis bone, Narrow palpebral fissure, Ab...	ORPHA:2637
Dpm1-Cdg	Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Downslanted palpebral fissures, Long h...	ORPHA:79322
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Telecanthus, Aplastic clavic...	ORPHA:50945
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Patent ductus arteriosus, Deviation of the 2nd finge...	ORPHA:1305
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Pleural effusion, Testi...	OMIM:235200
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Abnormal pelvis bone morphology, Abnormal nasolacrimal system morphology, Camptod...	ORPHA:2273
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal size of the palpebral fissures, Highly arched eyebrow, Patent ductus arteriosus, Recurre...	ORPHA:500159
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand...	OMIM:300968
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contractur...	OMIM:620369
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Epicanthus, Metatarsus adductus, Short toe, 4-5 toe synd...	ORPHA:3041
Tularemia	Respiratory distress, Pneumonia, Pleural effusion, Conjunctivitis, Cough, Conjunctival hyperemia	ORPHA:3392
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces...	ORPHA:536467
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Overlapping toe, Micrognathia, Carious teeth, Almond-shaped palpebral fissu...	ORPHA:177907
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615726
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Neonatal respiratory distress, Recurrent aspiration pneumonia, Single transvers...	ORPHA:79243
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly,...	OMIM:256520
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Adnp Syndrome	Respiratory distress, Broad hallux, Sandal gap, Single transverse palmar crease, Abnormal toe mor...	ORPHA:404448
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Dyspnea, Patent ductus arteriosus, Lower eyelid edema, Large ha...	ORPHA:363705
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal wid...	OMIM:271510
Hypoglossia-Hypodactylia	Epicanthus, Micrognathia, Adactyly, Split hand, Retrognathia	OMIM:103300
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Long eyelashes, Overlapping fingers, Retrognathia, ...	ORPHA:79330
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Telecanthus, Death in infancy, Micrognathia, Adactyly, Split ha...	ORPHA:989
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Palpebral edema, Upper airway obstruction	ORPHA:100057
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hypoplasia of the maxill...	ORPHA:1798
Oromandibular Dystonia	Blepharospasm, Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respirat...	ORPHA:93958
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Micromelia, Trism...	ORPHA:3206
Rubinstein-Taybi Syndrome 1	Respiratory distress, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, H...	OMIM:180849
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Upslanted palpebral fissure, Short phalanx of finger, Brachydactyly	OMIM:600092
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia, Anterior encephalocele	OMIM:601357
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Femoral bowing, S...	OMIM:618188
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Camptodactyly, Malar flattening, ...	OMIM:608257
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Mandibular prognathia, Epicanthus, Synophrys, Asthma, 2-3 toe syndac...	ORPHA:488632
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Supernum...	ORPHA:800
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Autosomal Recessive Robinow Syndrome	Micrognathia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synosto...	ORPHA:1507
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation...	ORPHA:2554
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, Synophrys...	OMIM:122470
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Aplasia/Hypoplasia of the ...	ORPHA:1225
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Epicanthus, Telecanthus, Micrognathia, Patent ductus arteriosus, Dental malocclusion,...	OMIM:616894
8Q24.3 Microdeletion Syndrome	Respiratory distress, Branchial cyst, Congenital hip dislocation, Single transverse palmar crease...	ORPHA:508488
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Limited elbow movement, Micrognathia, Preaxial hand polydactyly, Enlarged metap...	ORPHA:508533
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Telecanthus, Wide anterior fontanel, Neonatal death, Hepatic periportal nec...	OMIM:231680
Isolated Atp Synthase Deficiency	Hypogonadism, Hypothyroidism, Respiratory distress	ORPHA:254913
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Short long bone, Meso...	OMIM:616229
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Recurrent pne...	OMIM:616271
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Conjunctivitis, Sparse medial eyebrow, Recurrent asp...	OMIM:616268
Congenital Myasthenic Syndrome	Microretrognathia, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of re...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of re...	ORPHA:98914
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Telecanthus, Epicanthus, Upslanted palpebral fissure, Long palpebral fissur...	ORPHA:438216
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ...	ORPHA:2636
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Sparse eyebrow, ...	ORPHA:175
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Anencephaly, Retrognathia	ORPHA:2189
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Death in infancy, Micromelia, Micro...	OMIM:259775
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Elevated circulating luteinizing...	OMIM:305400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia	OMIM:620306
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Kinsship Syndrome	Mandibular prognathia, Death in infancy, Single transverse palmar crease, Coxa valga, Micrognathi...	OMIM:619297
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Epicanthus, Talipes equinovarus, Aspiration, Wrist flexion contracture	OMIM:618733
Farber Disease	Respiratory distress, Abnormality of the hand, Short toe, Abnormality of the elbow, Respiratory i...	ORPHA:333
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Downslanted palpebral fissures, Palmoplantar ...	OMIM:123790
Gm1 Gangliosidosis	Mandibular prognathia, Camptodactyly of finger, Patent ductus arteriosus, Abnormal diaphysis morp...	ORPHA:354
Inhalational Anthrax	Respiratory distress, Dyspnea, Abnormal sweat gland morphology	ORPHA:247257
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Palmoplantar cutis gyrata, Palmoplantar keratoderma, Hypoplasia of the zygo...	ORPHA:1555
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress	OMIM:620166
Cranioectodermal Dysplasia 2	Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Rhizomelia, Sparse eyelashes, Micrognathi...	OMIM:613610
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Mitochondrial swelling	OMIM:615595
Omodysplasia 1	Short humerus, Epicanthus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia...	OMIM:258315
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, ...	OMIM:620278
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hyp...	ORPHA:3404
Gm1-Gangliosidosis, Type Ii	Limb undergrowth, Patent ductus arteriosus, Hypoplastic vertebral bodies, Coxa valga	OMIM:230600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu...	OMIM:220110
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Dental malocclusion, Micrognathia	ORPHA:329178
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Keratoconjunctivitis	ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias	OMIM:619272
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Micromelia, Elbow dislocation, Micrognathia, Patent ...	ORPHA:99776
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Patent ductus arteriosus, Retrognathia, Hip dislocation	OMIM:618005
Tetanus	Respiratory distress, Trismus, Tachypnea	ORPHA:3299
Pachyonychia Congenita	Respiratory distress, Natal tooth, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Palmar h...	ORPHA:2309
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Mgat2-Cdg	Respiratory distress, Patent ductus arteriosus, Long eyelashes, Downslanted palpebral fissures, B...	ORPHA:79329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia...	ORPHA:1855
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Micrognathia, Neonatal death, Retrognathia	OMIM:608013
Ramos-Arroyo Syndrome	Respiratory distress, Carious teeth, Dacryocystitis, Patent ductus arteriosus, Nasolacrimal duct ...	ORPHA:1051
Desmosterolosis	Epicanthus, Micromelia, Micrognathia, Metatarsus adductus, Patent ductus arteriosus, Retrognathia...	ORPHA:35107
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Telecanthus, Irregular iliac crest, R...	ORPHA:99646
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Short femur, Apnea, Patent ductus arteriosus, Polydactyly, P...	ORPHA:17
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Hypospadias, ...	ORPHA:209905
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Micromelia, Micrognathia, Abnormal eyelid morphology, Tr...	ORPHA:2671
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Overlapping toe, Palpebral edema, Recurrent pneumonia, Broad palm, Long ey...	ORPHA:99843
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Restrictive Dermopathy 1	Micrognathia, Overtubulated long bones, Neonatal death, Absent eyelashes, Wide anterior fontanel,...	OMIM:275210
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Almond-shaped palpebral fissure, Short proximal phalanx...	ORPHA:261323
Doors Syndrome	11 pairs of ribs, Respiratory distress, Epicanthus, Aplasia/Hypoplasia of the phalanges of the 2n...	ORPHA:79500
Diamond-Blackfan Anemia 10	Respiratory distress, Malar flattening, Patent ductus arteriosus, Micrognathia	OMIM:613309
Japanese Encephalitis	Respiratory distress, Elbow flexion contracture, Distal upper limb muscle weakness, Respiratory p...	ORPHA:79139
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Rhizome...	ORPHA:818
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Respiratory distress, Overlapping toe, Micrognathia, Wide anterior fon...	ORPHA:798
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Eyelid coloboma, Shallow orbits, Phocomelia, Wrist flexion contrac...	OMIM:268300
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth...	OMIM:222300
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ...	ORPHA:465508
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Micrognathia, Patent ductus arteriosus, Mesomelia, Blepharophimosis, Hip subluxation,...	OMIM:613457
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Epicanthus, Overlapping toe, Arachnodactyly, Single transverse palmar creas...	ORPHA:83617
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Epicanthus, Telecanthus, Patent ductus arteriosus, Stridor, Deep palmar cre...	ORPHA:505248
Pyknoachondrogenesis	Craniofacial hyperostosis, Palpebral edema, Micromelia, Short iliac bones, Abnormal iliac wing mo...	ORPHA:3003
Primary Dystonia, Dyt4 Type	Blepharospasm, Respiratory distress	ORPHA:98805
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Genu valgum, Conical incisor, Abno...	ORPHA:289
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Single transverse palmar crease, Synophrys, Asthma, Nasal flaring, Short palm, Long p...	ORPHA:466943
Osteogenesis Imperfecta, Type Vii	Death in infancy, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Mic...	OMIM:610682
Isolated Arrhinia	Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage, Eyelid coloboma	ORPHA:1134
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid...	OMIM:305600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Respiratory distress, Telecanthus, Congenital hip dislocation, Overlapping toe, Po...	ORPHA:480880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Sudden episodic apnea, Elbow flexion contracture	ORPHA:468699
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Hand oligodacty...	ORPHA:45358
Acrocephalopolydactylous Dysplasia	Upslanted palpebral fissure, Epicanthus, Postaxial hand polydactyly, Micromelia	OMIM:200995
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i...	OMIM:164310
Esophageal Atresia	Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs...	ORPHA:1199
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Renal tubu...	ORPHA:79404
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Prostatitis	ORPHA:1546
Robinow Syndrome	Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognathia, Missing ribs, Persist...	ORPHA:97360
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Biotinidase Deficiency	Respiratory distress, Apnea, Myelopathy, Conjunctivitis, Hyperventilation	ORPHA:79241
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Single transverse palmar crease, Small hand, Intrinsic hand muscle atrophy,...	OMIM:615273
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelash...	OMIM:305100
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Patent ductus arteriosus, Pulmonary arterial hypertensi...	ORPHA:210122
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Anencephaly, Short ri...	OMIM:616546
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Coccidioidomycosis	Respiratory distress, Abnormal sperm morphology, Pneumonia, Abnormality of the endocrine system, ...	ORPHA:228123
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology,...	ORPHA:2556
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Swelling of proximal interphalangeal joints, Pulmonary embolism, Dyspnea, A...	ORPHA:3260
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Abnormality of the upper limb	ORPHA:36234
Smith-Lemli-Opitz Syndrome	Microretrognathia, Death in infancy, Epicanthus, Overlapping toe, Micromelia, Proximal placement ...	OMIM:270400
C Syndrome	Death in infancy, Epicanthus, Toe syndactyly, Bilateral single transverse palmar creases, Microme...	ORPHA:1308
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Dyspnea, ...	ORPHA:31204
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits, Hepatocellular necrosis	OMIM:256810
Rodrigues Blindness	Nasal flaring	OMIM:268320
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Aprosencephaly Syndrome	Anencephaly, Hand oligodactyly	OMIM:207770
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Toxic Epidermal Necrolysis	Respiratory distress, Entropion, Restrictive ventilatory defect, Conjunctivitis, Cough	ORPHA:537
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Patent ductus arteriosus...	OMIM:306955
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Ptosis, Orthopnea, Respiratory insufficiency due to muscle weakness, Respir...	ORPHA:365
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Rhinitis, Crackles	ORPHA:319213
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Thin eyebrow	ORPHA:2131
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Epicanthus, Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abno...	ORPHA:93271
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Hyperthyroidism, Pneumonia, Abnormality of the endocrine system, Thyroiditi...	ORPHA:37042
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Patent ductus arteriosus, Upper airwa...	ORPHA:141127
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension	ORPHA:185
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Slender toe, Abnormality of the Leydig cel...	ORPHA:3063
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Patent ductus arteriosus, Short ...	ORPHA:709
Steinert Myotonic Dystrophy	Endometrial carcinoma, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hyp...	ORPHA:273
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Trichiasi...	ORPHA:95455
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal pattern of ...	ORPHA:31826
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Patent ductus arteriosus...	ORPHA:97214
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis	ORPHA:533
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Aortic Arch Interruption	Respiratory distress, Patent ductus arteriosus, Tachypnea, Exertional dyspnea	ORPHA:2299
Gitelman Syndrome	Neoplasm of the pancreas, Respiratory distress, Maternal diabetes, Diabetic ketoacidosis, Type I ...	ORPHA:358
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Res...	ORPHA:805
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Patent ductus arteriosus, Con...	ORPHA:2255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Sparse eyelashes, Sparse eyebrow, Respirator...	OMIM:614748
Generalized Arterial Calcification Of Infancy	Respiratory distress, Calcification of the auricular cartilage, Stippled calcification of the sho...	ORPHA:51608
Plague	Respiratory distress, Conjunctival hyperemia, Abnormality of the elbow, Acute infectious pneumonia	ORPHA:707
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating...	ORPHA:64
Leptospirosis	Respiratory distress, Pleural effusion, Conjunctival hyperemia, Cough	ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Patent ductus arteriosu...	ORPHA:99125
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Epicanthus, Long fingers, Upslanted palpebral fissur...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cyp26b1

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 Cyp26b1.

No publications found that use IMPC mice or data for Cyp26b1.

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
Cyp26b1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cyp26b1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cyp26b1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cyp26b1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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