Not currently registered for phenotyping at IMPC

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

Gene Summary

collagen, type V, alpha 2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Col5a2 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.

The table below shows human diseases associated to Col5a2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Col5a2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Lichen Amyloidosis
Pruritus ORPHA:49804
Brittle Cornea Syndrome 1
Red hair, Spondylolisthesis, Molluscoid pseudotumors, Keratoglobus, Keratoconus, Decreased cornea... OMIM:229200
Dermatitis, Atopic
Facial erythema, Keratoconus, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis,... OMIM:603165
Classic Mycosis Fungoides
Hypopigmented skin patches, Skin ulcer, Erythema, Skin rash, Dry skin, Eczematoid dermatitis, Ski... ORPHA:2584
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Papule, Death in infancy, S... ORPHA:2028
Diffuse Palmoplantar Keratoderma, Bothnian Type
Papule, Skin ulcer, Erythema, Pruritus ORPHA:2337
Flynn-Aird Syndrome
Skin ulcer, Cachexia, Scoliosis, Kyphosis, Cataract, Dermal atrophy, Alopecia ORPHA:2047
Necrobiosis Lipoidica
Skin ulcer, Indurated nodule, Atrophic scars, Papule, Skin nodule, Inflammatory abnormality of th... ORPHA:542592
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Skin ulcer, Skin rash, Subcutaneous nodule, Recurrent cutaneous abscess formation, Pruritus ORPHA:231
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Chilblain Lupus
Skin ulcer, Malar rash, Erythematous papule, Skin rash, Discoid lupus rash, Inflammatory abnormal... ORPHA:90280
Proliferating Trichilemmal Cyst
Epidermoid cyst, Sparse scalp hair, Skin ulcer ORPHA:492
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Skin ulcer, Excessive wrinkled skin, Scoliosis, Aplasia/Hypoplasia of the skin, Thin skin, Fine hair ORPHA:2500
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Pterygium, Papule, Dermal atrophy, Pruritus, Alopecia ORPHA:525
Breath-Holding Spells
Pallor OMIM:607578
Hyperkeratosis Lenticularis Perstans
Papule, Skin ulcer, Aplasia/Hypoplasia of the skin, Pruritus ORPHA:409
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Scoliosis, Death in adolescence, Eczematoid dermatitis, Neonata... OMIM:619751
Chilblain Lupus 1
Skin ulcer, Chilblains OMIM:610448
Aplasia Cutis Congenita
Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, ... ORPHA:1114
Reticular Dysgenesis
Failure to thrive, Skin rash, Skin ulcer, Weight loss ORPHA:33355
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema, Subcutaneous nodule ORPHA:31112
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Respiratory distress ORPHA:141152
Dermatoosteolysis, Kirghizian Type
Dystrophic fingernails, Skin ulcer, Scoliosis, Dystrophic toenail, Aplasia/Hypoplasia of the skin... ORPHA:1657
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss, Conjunctival hamartoma ORPHA:312
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s... OMIM:271630
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Cataract OMIM:617404
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Skin ulcer, Skin rash, Failure to thrive, Weight loss, Conjunctivitis... ORPHA:47
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus, Arrhythmia OMIM:618531
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Corneal dystrophy, Microcornea, Sclerocornea, Sparse hair, Cataract, Fine hair, Kerat... ORPHA:1806
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Skin rash, Skin ulcer ORPHA:229717
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity, Acne ORPHA:577
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Acrodermatitis Enteropathica
Skin ulcer, Corneal erosion, Dry skin, Failure to thrive, Pustule, Abnormal eyebrow morphology, W... ORPHA:37
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Prolidase Deficiency
Skin ulcer, Erythema, Hirsutism, Aplasia/Hypoplasia of the skin, Dry skin, Papule, White forelock... ORPHA:742
Arthrogryposis, Distal, Type 5
Astigmatism, Exertional dyspnea, Keratoglobus, Keratoconus, Scoliosis, Kyphosis OMIM:108145
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Skin rash, Scoliosis, Papule, Eczem... ORPHA:2314
Free Sialic Acid Storage Disease
Failure to thrive in infancy, Iris hypopigmentation, Skin ulcer ORPHA:834
Prolidase Deficiency
Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Eczematoid dermatitis, Failure t... OMIM:170100
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Ollier Disease
Platyspondyly, Skin ulcer, Subcutaneous nodule ORPHA:296
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Takayasu Arteritis
Abnormal pattern of respiration, Skin ulcer, Weight loss, Subcutaneous nodule ORPHA:3287
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Atlantoaxial dislocation, Os... OMIM:600561
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Exertional dyspnea ORPHA:352470
Perching Syndrome
Scoliosis, Respiratory distress OMIM:617055
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Respiratory distress OMIM:619099
Skin ulcer, Papule, Weight loss, Pallor, Skin plaque ORPHA:507
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Microtriplication 11Q24.1
Keratoconus, Scoliosis, Synophrys, Long eyelashes, Obesity, Thick eyebrow, Short neck ORPHA:289522
Familial Anetoderma
Papule, Lumbar hyperlordosis ORPHA:228277
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Nevus flammeus, Scoliosis, Papule ORPHA:624
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Scoliosis, Respiratory distress OMIM:300934
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Thin skin, Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:743
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Optic Atrophy 1
Pallor OMIM:165500
Werner Syndrome
Premature graying of hair, Skin ulcer, Miscarriage, Aplasia/Hypoplasia of the skin, Sparse scalp ... ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 23
Astigmatism, Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline OMIM:615761
Keratoconus Posticus Circumscriptus
Keratoconus, Short neck, Central posterior corneal opacity, Abnormal vertebral segmentation and f... OMIM:244600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck OMIM:300718
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Dry skin, Kyphosis, Obesity, Cataract, Keloids ORPHA:3085
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Plat... OMIM:609223
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Scoliosis, Respiratory distress OMIM:614399
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Spinal rigidity, Lumbar hyperlordosis OMIM:255600
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Recurrent bacterial skin infections, Atopic dermatitis ORPHA:217390
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Hemoglobin D Disease
Pallor ORPHA:90039
Lethal Osteosclerotic Bone Dysplasia
Short neck, Dyspnea, Respiratory distress ORPHA:1832
Polyarteritis Nodosa
Subcutaneous nodule, Skin ulcer, Weight loss, Erythema ORPHA:767
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Atopic dermatitis OMIM:620603
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Abnormality of hai... ORPHA:90354
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Lumbar hyperlordosis, Obesity, Kyphosis OMIM:616756
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Diastrophic Dysplasia
Kyphoscoliosis, Nevus flammeus, Scoliosis, Small for gestational age, Cervical kyphosis, Hypoplas... OMIM:222600
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Respiratory distress OMIM:617977
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Buerger Disease
Skin ulcer ORPHA:36258
Infantile Myofibromatosis
Skin ulcer, Abnormal sacrum morphology, Subcutaneous nodule, Abnormal hair morphology ORPHA:2591
Bare Lymphocyte Syndrome, Type I
Ectopia lentis, Skin ulcer OMIM:604571
Brooke-Spiegler Syndrome
Skin nodule, Nodular changes affecting the eyelids, Skin ulcer, Skin-colored papule ORPHA:79493
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin skin, Failure to thrive, Sparse hair, Aplasia/Hypoplasia of the eyebro... ORPHA:261304
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Inflammatory abnormality of the skin, Cataract, Dermal atrophy ORPHA:454831
Incontinentia Pigmenti
Hypopigmented skin patches, Skin ulcer, Spina bifida occulta, Abnormal hair morphology, Skin rash... ORPHA:464
Leber Congenital Amaurosis 2
Cataract, Keratoconus OMIM:204100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Papule, Pustule, Skin vesicle ORPHA:48104
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress OMIM:615993
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Spinal rigidity, Hyperlordosis, Death in infancy ORPHA:157973
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Pyoderma gangrenosum, Alopecia OMIM:616576
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis, Exertional dyspnea, Dyspnea OMIM:615156
Rigid Spine Syndrome
Scoliosis, Spinal rigidity, Hyperlordosis ORPHA:97244
Papa Syndrome
Pustule, Skin ulcer, Acne ORPHA:69126
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Respiratory distress OMIM:300580
Atelosteogenesis, Type Ii
Stillbirth, Increased intervertebral space, Scoliosis, Horizontal sacrum, Death in infancy, Coron... OMIM:256050
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Pyoderma gangrenosum, Acne OMIM:604416
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Leber Congenital Amaurosis 1
Cataract, Keratoconus OMIM:204000
Holocarboxylase Synthetase Deficiency
Perioral eczema, Respiratory distress, Keratoconjunctivitis, Eczematoid dermatitis, Weight loss, ... ORPHA:79242
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Nail dystrophy, Dystrophic fingernails, Skin ulcer, Dystrophic toenai... ORPHA:2907
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive, Death in infancy OMIM:616974
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Dystonia 31
Abnormal posturing OMIM:619565
Nemaline Myopathy 5C, Autosomal Dominant
Scoliosis, Hyperlordosis, Slender build OMIM:620389
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers ORPHA:36386
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis OMIM:602484
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress ORPHA:26792
Mulchandani-Bhoj-Conlin Syndrome
Hypermelanotic macule, Scoliosis, Hyperlordosis, Cafe-au-lait spot, Failure to thrive OMIM:617352
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis OMIM:614198
Anauxetic Dysplasia 2
Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Ovoid vertebral bodies, ... OMIM:617396
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis OMIM:619042
Reynolds Syndrome
Skin rash, Skin ulcer, Pruritus, Keratoconjunctivitis sicca ORPHA:779
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Slender build OMIM:300831
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Nail dystrophy, Acral ulceration, Corneal ulceration, Corneal scarrin... OMIM:256800
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Weight loss, Erythematous plaque ORPHA:86884
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scoliosis, Hyperlordosis OMIM:611067
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Congenital Myopathy 16
Scoliosis, Spinal rigidity, Lumbar hyperlordosis OMIM:618524
Juvenile Dermatomyositis
Skin ulcer, Skin rash, Dyspnea, Dry skin, Pruritus, Weight loss, Erythema, Alopecia ORPHA:93672
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Acquired Purpura Fulminans
Erythematous macule, Macular purpura, Skin rash, Macule, Pyoderma gangrenosum ORPHA:49566
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Dyskeratosis Congenita
Premature graying of hair, Hypopigmented skin patches, Nail dystrophy, Hypermelanotic macule, Ski... ORPHA:1775
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Spinal rigidity, Respiratory distress, Scoliosis, Dyspnea, Lumbar hyperlordosis ORPHA:86812
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress ORPHA:91130
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Kyphosis OMIM:615290
Congenital Myopathy 2A, Typical, Autosomal Dominant
Scoliosis, Spinal rigidity, Hyperlordosis, Slender build OMIM:161800
Toxic Epidermal Necrolysis
Skin ulcer, Corneal erosion, Respiratory distress, Macule, Weight loss, Conjunctivitis, Erythema ORPHA:537
Immunodeficiency 95
Respiratory distress OMIM:619773
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis ORPHA:280333
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Scoliosis, Respiratory distress ORPHA:254875
Leber Congenital Amaurosis
Cataract, Keratoconus ORPHA:65
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Skin fissure, Sparse hair, Erythema, Alopecia ORPHA:659
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer, Generalized hirsutism ORPHA:2218
Localized skin lesion, Respiratory distress, Skin rash, Conjunctival hyperemia, Conjunctivitis, E... ORPHA:3392
Neurogenic Arthrogryposis Multiplex Congenita
Skin dimple, Scoliosis, Respiratory distress ORPHA:1143
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Irida Syndrome
Pallor ORPHA:209981
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Scoliosis, Hyperlordosis, Low posterior hairline ORPHA:1387
Meige Disease
Skin ulcer, Recurrent bacterial skin infections, Recurrent skin infections, Atypical scarring of ... ORPHA:90186
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Blue irides, Frontal balding, Truncal obesity, Thoracic kyphosis, Cafe-au-lait sp... ORPHA:3041
Retinitis Pigmentosa 51
Pallor OMIM:613464
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Skin tags, Respiratory distress, Wide anterior fontanel, Redundant skin, Kyphosis, Neonatal death... OMIM:616482
Cryoglobulinemic Vasculitis
Petechiae, Purpura, Skin ulcer, Keratoconjunctivitis sicca ORPHA:91138
Nemaline Myopathy 2
Spinal rigidity, Scoliosis, Hyperlordosis, Slender build, Apnea OMIM:256030
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Scoliosis, Death in infancy OMIM:615042
Hajdu-Cheney Syndrome
Skin ulcer, Scoliosis, Dry skin, Kyphosis, Synophrys, Biconcave vertebral bodies, Failure to thri... ORPHA:955
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis ORPHA:363454
Costello Syndrome
Abnormal hair morphology, Keratoconus, Redundant skin, Woolly hair, Failure to thrive in infancy,... ORPHA:3071
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Failure to thrive, Sparse hair, Conjunctivitis, Erythroderma, Alopecia OMIM:242150
Pallor, Skin ulcer ORPHA:848
Attenuated Chédiak-Higashi Syndrome
Skin ulcer, Ocular albinism ORPHA:352723
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Adult Syndrome
Breast hypoplasia, Skin ulcer, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Dry skin, T... ORPHA:978
Chronic Mucocutaneous Candidiasis
Skin ulcer, Skin rash, Papule, Pruritus, Erythema ORPHA:1334
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Decreased corneal thickness, Hirsutism ORPHA:293967
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Pleural Mesothelioma
Dyspnea, Weight loss, Respiratory distress ORPHA:50251
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Developmental glaucoma, Scoliosis, Penetrating foot ulcers, Cataract, Buphthalmos ORPHA:99956
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis, Failure to thrive, Pallor ORPHA:536516
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Skin ulcer, Abnormality of skin physiology ORPHA:280062
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Pseudodiastrophic Dysplasia
Scoliosis, Failure to thrive, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral de... OMIM:264180
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract, Acral ulceration OMIM:162400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Scoliosis, Hyperlordosis, Obesity, Coronal cleft vertebrae, Irregular vertebral e... OMIM:618363
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... ORPHA:66637
Livedoid Vasculopathy
Skin ulcer, Erythematous papule, Macular purpura, Atrophic scars, Superficial dermal perivascular... ORPHA:542643
Infantile Systemic Hyalinosis
Short neck, Skin ulcer, Failure to thrive, Subcutaneous nodule ORPHA:2176
Schimke Immunoosseous Dysplasia
Coarse hair, Hypermelanotic macule, Astigmatism, Thoracic kyphosis, Dyspnea, Short neck, Macule, ... OMIM:242900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Failure to thrive, Scoliosis, Respiratory distress ORPHA:544503
Ck Syndrome
Kyphoscoliosis, Slender build, Lumbar hyperlordosis ORPHA:251383
Succinic Acidemia
Respiratory distress OMIM:600335
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Hyperlordosis, Sparse ... OMIM:616817
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress ORPHA:77260
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Intellectual Disability And Myopathy Syndrome
Scoliosis, Atopic dermatitis, Cafe-au-lait spot, Lumbar hyperlordosis, Spotty hypopigmentation OMIM:619719
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Blau Syndrome
Iritis, Skin ulcer, Intermittent generalized erythematous papular rash, Band keratopathy, Erythem... OMIM:186580
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Microcornea, Dyspnea, Preauricular skin tag, Absent eyebrow, Failure to thr... ORPHA:2707
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Hirsutism OMIM:175700
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Lumbar hyperlordosis OMIM:610313
Alagille Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Butterfly vertebral arch, Keratoconu... ORPHA:52
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Central apnea, Respiratory distress ORPHA:70589
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Pyoderma gangrenosum OMIM:150550
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Platyspondyly, Respiratory distress, Scoliosis, Death in infancy ORPHA:166272
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Nemaline Myopathy 7
Kyphoscoliosis, Lumbar hyperlordosis OMIM:610687
Skin ulcer, Papule, Skin detachment, Keratitis, Subcutaneous nodule, Maculopapular exanthema ORPHA:228119
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Scoliosis, Long eyelashes, Cutis laxa, Ovoid vertebral bodies, Lumbar hype... OMIM:619451
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract, Hyperlordosis ORPHA:369840
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Dominant Beta-Thalassemia
Failure to thrive in infancy, Pallor, Skin ulcer, Dyspnea ORPHA:231226
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Dyspnea ORPHA:220393
Purpura, Pallor OMIM:254450
Respiratory distress ORPHA:673
Microscopic Polyangiitis
Subcutaneous nodule, Skin rash, Skin ulcer, Erythema ORPHA:727
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Thoracic scoliosis ORPHA:62
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic kyphosis, Lumbar hyperlordosis, Thoracic scoliosis ORPHA:206546
Skin ulcer, Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Recurrent skin infection... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Death in childhood, Respiratory distress OMIM:615597
Gapo Syndrome
Breast hypoplasia, Keratoconus, Wide anterior fontanel, Hypoplastic nipples, Scoliosis, Megalocor... OMIM:230740
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Skin ulcer, Corneal ulceration, Papule, Conjunctival hyperemia, Pustule, ... ORPHA:68
Rodrigues Blindness
Microcornea, Nasal flaring, Sclerocornea, Sparse hair, Fine hair OMIM:268320
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Pachyonychia Congenita
Nail dystrophy, Cutaneous cyst, Respiratory distress, Failure to thrive, Eruptive vellus hair cys... ORPHA:2309
Chronic Granulomatous Disease
Macule, Hypermelanotic macule, Skin ulcer, Eczematoid dermatitis ORPHA:379
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp... OMIM:313400
Primary Myelofibrosis
Petechiae, Purpura, Ecchymosis, Pallor ORPHA:824
Systemic Sclerosis
Acral ulceration, Cutaneous sclerotic plaque, Alopecia, Digital ulcer, Dyspnea, Digital pitting s... ORPHA:90291
Giant Cell Arteritis
Skin ulcer, Weight loss, Alopecia ORPHA:397
Oculocerebrorenal Syndrome Of Lowe
Skin ulcer, Platyspondyly, Scoliosis, Corneal opacity, Sparse scalp hair, Kyphosis, Death in infa... ORPHA:534
Sweet Syndrome
Erythematous papule, Predominantly dermal neutrophilic infiltrate, Skin nodule, Pustule, Acne, Sk... ORPHA:3243
Spinal canal stenosis, Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:429
Retinitis Pigmentosa 75
Pallor OMIM:617023
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Leukonychia, Skin ulcer, Abnormal hair morphology, Abnormal eyelash morphology, Dry... ORPHA:2526
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Platyspondyly, Microcornea, Scoliosis, Short neck, Generalized hirsutism, Coronal... OMIM:255800
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Scoliosis, Hyperlordosis, Kyphosis, Short ... OMIM:253000
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Failure to thrive, Tachypnea OMIM:614857
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Elliptocytosis 1
Pallor OMIM:611804
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Failure to thrive, Short neck, Lumbar hyperlordosis OMIM:619542
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tachypnea, Respiratory distress OMIM:263000
Skin ulcer, Skin rash, Papule, Inflammatory abnormality of the skin, Subcutaneous nodule, Pruritus ORPHA:556
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Respiratory distress, Wafer-thin platyspondyly, Ovoid vertebral bodies, Severe platys... OMIM:151210
Gapo Syndrome
Hypopigmented skin patches, Skin tags, Abnormal form of the vertebral bodies, Keratoconus, Sparse... ORPHA:2067
Verrucous papule, Iritis, Loss of eyelashes, Acral ulceration, Corneal ulceration, Hypopigmented ... ORPHA:548
Angelman Syndrome
Astigmatism, Keratoconus, Scoliosis, Iris hypopigmentation, Obesity, Inappropriate laughter, Fair... ORPHA:72
Hereditary Sensory And Autonomic Neuropathy Type 2
Dystrophic fingernails, Dystrophic toenail, Hyperlordosis ORPHA:970
Dravet Syndrome
Pallor ORPHA:33069
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Short neck, Abnorm... ORPHA:1797
Odontochondrodysplasia 1
Biconvex vertebral bodies, Respiratory distress, Scoliosis, Death in infancy, Coronal cleft verte... OMIM:184260
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Facial erythema, Skin ulcer, Erythema, V-sign, Abnormal hair quantity, Skin rash, Aplasia/Hypopla... ORPHA:221
Neutrophilic Dermatosis, Acute Febrile
Erythema, Cystic acne, Pyoderma gangrenosum, Acne inversa OMIM:608068
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Scoliosis, Thoracic kyphosis, Hyperlordosis, Developmental c... ORPHA:557003
Granulomatosis With Polyangiitis
Skin ulcer, Keratitis, Weight loss, Conjunctivitis OMIM:608710
Cushing Disease
Purpura, Skin ulcer, Vertebral compression fracture, Hirsutism, Increased body weight, Sparse sca... ORPHA:96253
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress OMIM:245590
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress OMIM:616733
Congenital Heart Block
Pallor ORPHA:60041
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Hump-shaped mound o... ORPHA:99642
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pyoderma gangrenosum ORPHA:486
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Shagreen patch, Scoliosis, Hyperlordosis ORPHA:2511
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Papule ORPHA:493
Myopathy, Distal, 1
Scoliosis, Lumbar hyperlordosis OMIM:160500
Beta-Thalassemia Major
Failure to thrive in infancy, Pallor, Skin ulcer, Dyspnea ORPHA:231214
Wieacker-Wolff Syndrome
High anterior hairline, Scoliosis, Hyperlordosis, Kyphosis, Apnea, Short neck OMIM:314580
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Scoliosis, Back pain, Antecubital pterygium, Cataract, Les... OMIM:161200
Intellectual Developmental Disorder, Autosomal Dominant 52
Astigmatism, Cervical C2/C3 vertebral fusion, Synophrys, Lumbar scoliosis, Low anterior hairline,... OMIM:617796
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Cold Agglutinin Disease
Pallor ORPHA:56425
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Corneal pterygium, Nail dystrophy, Skin ulcer, Symblepharon OMIM:245660
Craniofaciofrontodigital Syndrome
Large for gestational age, Premature skin wrinkling, Thick hair, Respiratory distress, Scoliosis,... ORPHA:363705
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Myotonic Dystrophy 1
Cataract, Frontal balding, Respiratory distress OMIM:160900
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Scoliosis, Hyperlordosis, Kyphosis OMIM:128100
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Myopic astigmatism, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Thoracolumbar scoliosis, Obesi... OMIM:618443
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Failure to thrive, Tachypnea, Hyperventilation ORPHA:91359
Wiskott-Aldrich Syndrome
Purpura, Skin ulcer, Petechiae, Dyspnea, Eczematoid dermatitis, Keratitis, Conjunctivitis ORPHA:906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion OMIM:606612
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Kniest Dysplasia
Platyspondyly, Respiratory distress, Coronal cleft vertebrae, Lumbar kyphoscoliosis, Cataract, Sh... OMIM:156550
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Scoliosis, Lumbar hyperlordosis OMIM:618167
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Chronic Graft Versus Host Disease
Recurrent corneal erosions, Nail dystrophy, Skin ulcer, Erythema, Intermittent generalized erythe... ORPHA:99921
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Papule, Conjunctivitis, Abnormal cornea morphology, Pruritus ORPHA:411777
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Spinal rigidity, Hyperlordosis ORPHA:267
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Catastrophic Antiphospholipid Syndrome
Miscarriage, Skin ulcer ORPHA:464343
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Scoliosis, Hirsutism, Corneal opacity, Hyperlordosis, Kyph... ORPHA:354
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Dyspnea, Lumbar hyperlordosis ORPHA:435387
Respiratory distress OMIM:150280
Episodic Ataxia Type 1
Kyphoscoliosis, Scoliosis, Respiratory distress ORPHA:37612
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Hemivertebrae, Dyspnea, Abnormal form of the vertebral bodies ORPHA:2759
Blau Syndrome
Skin ulcer, Erythema nodosum, Skin rash, Dyspnea, Dry skin, Papule, Keratitis, Cataract, Erythema ORPHA:90340
Atypical Werner Syndrome
Premature graying of hair, Skin ulcer, Intervertebral disk degeneration, Abnormal hair morphology... ORPHA:79474
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis OMIM:255200
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Low posterior hairline ORPHA:1803
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Skin ulcer, Corneal erosion, Respiratory distress, Skin rash, Conjunc... ORPHA:95455
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Corneal opacity, Kyphosis, Ovoid vertebral bodies, Hypoplasia of the od... OMIM:253010
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Scoliosis, Dyspnea, Kyphosis OMIM:211530
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Decreased body weight, Short neck, Small for gestation... OMIM:614205
Hereditary Spherocytosis
Pallor, Skin ulcer, Maculopapular exanthema ORPHA:822
Desbuquois Dysplasia 1
Developmental glaucoma, Scoliosis, Hyperlordosis, Kyphosis, Obesity, Platyspondyly, Short neck OMIM:251450
Recurrent Respiratory Papillomatosis
Failure to thrive, Tachypnea, Dyspnea, Respiratory distress ORPHA:60032
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Scoliosis, Lumbar hyperlordosis OMIM:255310
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypo... OMIM:183900
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Failure to thrive, Neonatal ... OMIM:610921
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Respiratory distress OMIM:608799
Three M Syndrome 1
Increased vertebral height, Spina bifida occulta, Hyperlordosis, Thick eyebrow, Short neck, Small... OMIM:273750
Ramos-Arroyo Syndrome
High anterior hairline, Severe failure to thrive, Corneal ulceration, Respiratory distress, Decre... ORPHA:1051
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Kyphosis, Short neck, Opacification of the corneal stroma OMIM:252605
Arterial Tortuosity Syndrome
Keratoglobus, Respiratory distress, Keratoconus, Scoliosis, Redundant skin, Dyspnea, Thin skin ORPHA:3342
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Nocturnal hypoventilation, Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Spinal rigidity, Lumbar hyperlordosis OMIM:609308
Primary Dystonia, Dyt4 Type
Kyphoscoliosis, Eunuchoid habitus, Respiratory distress ORPHA:98805
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Chime Syndrome
Skin ulcer, Corneal opacity, Sparse hair, Fine hair, Erythema ORPHA:3474
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Pallor, Hyperlordosis, Distichiasis OMIM:600462
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Respiratory distress ORPHA:1145
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Intervertebral space narrowing, Abnormal lumbar spine morphology, Scoliosis, Thor... ORPHA:93284
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress ORPHA:79312
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Skin rash, Macule, Pustule, Erythema ORPHA:761
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis OMIM:616228
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Scoliosis, Low anterior hairline, Respiratory distress ORPHA:329178
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Respiratory distress OMIM:620011
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Back pain, Opacification of the corneal stroma, Lumbar hyperlordosis, Iris ... OMIM:169550
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Failure to thrive, Respiratory distress ORPHA:370924
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cataract, Hyperlordosis, Abnormality of the vertebral column ORPHA:52430
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Corneal opacity, Kyphosis, Spinal canal stenosis, Platyspondyly, Short ... ORPHA:582
Tetrasomy 5P
Redundant neck skin, Respiratory distress, Wide anterior fontanel, Preauricular pit, Failure to t... ORPHA:3309
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Weight loss, Respiratory distress ORPHA:411703
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Respiratory distress OMIM:250940
Usmani-Riazuddin Syndrome, Autosomal Dominant
Thoracic kyphosis, Lumbar hyperlordosis OMIM:619467
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis OMIM:167320
Tay-Sachs Disease
Pallor OMIM:272800
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachypnea, Respiratory distress ORPHA:264675
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Neonatal death, Developmental cataract, Respiratory distress OMIM:231680
Microphthalmia, Lenz Type
Microcornea, Hyperlordosis, Scoliosis, Kyphosis, Preauricular skin tag, Cataract, Iris coloboma ORPHA:568
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Isolated Atp Synthase Deficiency
Cataract, Respiratory distress ORPHA:254913
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Acral ulceration, Respiratory distress, Corneal ulceration, Corneal s... OMIM:256810
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer, Skin rash, Eczematoid dermatitis, Erythema nodosum, Urticarial plaque OMIM:615688
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Dry skin, Respiratory distress ORPHA:226313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis OMIM:613156
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Skin ulcer, Cachexia, Scoliosis, Corneal opacity, Ecchymosis, Thoracolumbar kyphosis ORPHA:2072
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer OMIM:620443
Progressive Pseudorheumatoid Arthropathy Of Childhood
Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ... ORPHA:1159
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Congenital kyphoscoliosis, Respiratory distress, Mic... ORPHA:536467
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Mydriasis, Carbuncle, Localized skin lesion, Skin ulcer, Respiratory distress, Skin rash, Dry ski... ORPHA:707
Typical Nemaline Myopathy
Nocturnal hypoventilation, Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck ORPHA:171436
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Scoliosis, Thick eyebrow, Facial hirsutism, Respiratory distress OMIM:619383
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Scoliosis, Cervical spine ins... ORPHA:750
Microlissencephaly-Micromelia Syndrome
Short neck, Generalized hypertrichosis, Failure to thrive, Respiratory distress ORPHA:50810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress ORPHA:927
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Sacral dimple, Astigmatism, Respiratory distress, Scoliosis, Unilateral breast hypoplasia, Catara... OMIM:300968
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis OMIM:613818
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Respiratory distress ORPHA:100057
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion ORPHA:313892
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, C1-C2 subluxation OMIM:184250
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Schwartz-Jampel Syndrome
Spinal rigidity, Platyspondyly, Cachexia, Microcornea, Hyperlordosis, Scoliosis, Abnormally ossif... ORPHA:800
Myotonia Permanens
Hyperlordosis, Dyspnea ORPHA:99735
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis OMIM:613723
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspondyly,... OMIM:184100
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss ORPHA:216866
Anaplastic Thyroid Carcinoma
Dyspnea, Weight loss, Respiratory distress ORPHA:142
Carnitine Deficiency, Systemic Primary
Failure to thrive, Respiratory distress OMIM:212140
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis ORPHA:2522
X-Linked Centronuclear Myopathy
Respiratory distress ORPHA:596
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Excessive wrinkled skin, Molluscoid pseudotumors, Keratoconus, Microcornea, Thin ... OMIM:225400
Arterial Tortuosity Syndrome
Astigmatism, Keratoconus, Scoliosis, Cutis laxa, Thin skin OMIM:208050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Scoliosis, Hyperlordosis, Curly hair OMIM:300986
Gaucher Disease, Perinatal Lethal
Purpura, Respiratory distress, Petechiae, Decreased body weight, Apnea, Neonatal death OMIM:608013
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity, Short neck ORPHA:98863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness, Thin skin, ... OMIM:618175
Primary Sjögren Syndrome
Purpura, Skin ulcer, Dry skin, Lichenoid skin lesion, Erythema nodosum, Corneal perforation, Kera... ORPHA:289390
Schimke Immuno-Osseous Dysplasia
Multiple lentigines, Hypermelanotic macule, Corneal opacity, Failure to thrive, Ovoid vertebral b... ORPHA:1830
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:98855
American Trypanosomiasis
Pallor ORPHA:3386
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Pallor, Apneic episodes in infancy,... ORPHA:348
Farber Disease
Respiratory distress, Corneal opacity, Failure to thrive, Periarticular subcutaneous nodules, Opa... ORPHA:333
Cryptogenic Organizing Pneumonia
Dyspnea, Weight loss, Respiratory distress ORPHA:1302
Parkes Weber Syndrome
Scaling skin, Skin ulcer, Back pain, Erythematous plaque, Capillary malformation ORPHA:90307
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Respiratory distress, Skin rash, Pustule, Failure to thrive in infancy OMIM:612852
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Respiratory distress, Abnormal social behavior, Scoliosis, Stellate iri... ORPHA:177907
Myopathy, Centronuclear, 1
Hyperlordosis OMIM:160150
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Low posterior hairline... ORPHA:2789
Lumbosacral meningocele, Respiratory distress, Absent in utero ossification of vertebral bodies, ... OMIM:608022
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Respiratory distress, Death in infancy OMIM:604377
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Obesity, Inflammatory abnormality of the skin, Tachypnea, Overweight, Small... ORPHA:26793
Iris coloboma, Scoliosis, Preauricular skin tag, Dermoid cyst, Cataract, Lumbar hyperlordosis, Wi... ORPHA:391474
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Corneal astigmati... ORPHA:141083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v... OMIM:230000
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Periorbital wrinkles, Respiratory distress, Absent eyelashes, Hypoplastic nipples, ... OMIM:305100
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Conjunctivitis, Tachypnea ORPHA:454836
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Obesity ORPHA:98853
Granulomatosis With Polyangiitis
Purpura, Skin ulcer, Skin rash, Papule, Weight loss ORPHA:900
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Senior-Loken Syndrome 8
Pallor OMIM:616307
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis OMIM:616852
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Lumbar hyperlordosis, Megalocornea, Cataract ORPHA:370959
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Hirsutism, Low posterior hairline, Synophrys, Long eyel... OMIM:617303
Localized skin lesion, Tachypnea, Respiratory distress ORPHA:3299
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Respiratory distress, Death in infancy, Narrow vertebral interpedicular distance, Lumbar kyphosis... OMIM:100800
Cervical spinal canal stenosis, Wide anterior fontanel, Kyphosis, Spinal canal stenosis, Obesity,... ORPHA:15
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse h... OMIM:234100
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress ORPHA:140896
Childhood Absence Epilepsy
Pallor ORPHA:64280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar hype... OMIM:609616
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Biotinidase Deficiency
Hyperventilation, Respiratory distress, Skin rash, Eczematoid dermatitis, Apnea, Conjunctivitis, ... ORPHA:79241
Moebius Syndrome
Short neck, Respiratory distress OMIM:157900
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Hyperlordosis ORPHA:269
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Spinal canal stenosis, Hypoplasia of th... OMIM:616007
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Acral ulceration OMIM:608654
Intellectual Developmental Disorder, Autosomal Dominant 29
Astigmatism, Nevus flammeus, Hyperlordosis, Hirsutism, Synophrys, Obesity, Lumbar hyperlordosis OMIM:616078
Cohen Syndrome
Childhood-onset truncal obesity, Thick eyebrow, Thoracic scoliosis, Small for gestational age, Lu... OMIM:216550
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis OMIM:162370
3Mc Syndrome
Abnormal anterior chamber morphology, Caudal appendage, Spina bifida occulta, Highly arched eyebr... ORPHA:293843
Familial Nasal Acilia
Dyspnea, Respiratory distress ORPHA:922
Jansen-De Vries Syndrome
Hyperlordosis OMIM:617450
Braddock-Carey Syndrome 1
Hyperlordosis, Sparse hair, Curly hair OMIM:619980
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Nipah Virus Disease
Respiratory distress ORPHA:99825
Cushing Syndrome Due To Ectopic Acth Secretion
Purpura, Skin ulcer, Vertebral compression fracture, Hirsutism, Increased body weight, Sparse sca... ORPHA:99889
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Three M Syndrome 2
Short neck, Hyperlordosis, Small for gestational age, Lumbar hyperlordosis OMIM:612921
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abnormal vertebral morphology, Vertebral compression fracture, Scolios... ORPHA:93352
Joubert Syndrome 37
Obesity, Lumbar hyperlordosis, Sparse hair OMIM:619185
Letterer-Siwe Disease
Pallor OMIM:246400
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Failure to thrive, Small for gestational age, Respiratory distress OMIM:607143
Hypoventilation, Respiratory distress, Hirsutism, Long eyelashes, Apnea, Thoracic scoliosis, Fair... ORPHA:79330
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:2831
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect ORPHA:1323
Respiratory distress, Scoliosis, Hirsutism, Hypoplastic nipples, Kyphosis, Long eyelashes, Failur... ORPHA:79329
Alfadhel Syndrome
Highly arched eyebrow, Nasal flaring OMIM:620655
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Butterfly vertebrae, Scoliosis, Hyperlordosis, Coronal cleft vertebrae OMIM:618870
Down Syndrome
Keratoconus, Obesity, Sparse hair, Atlantoaxial dislocation, Cataract, Short neck ORPHA:870
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis... ORPHA:93314
Vici Syndrome
Abnormal posturing, Hypopigmentation of hair, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:242840
Acute Lung Injury
Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Lumbar hyperlordosis OMIM:615980
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Dystrophic toenail, Hyperlordosis,... ORPHA:3253