| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 7 (39.0%) |
19305025 |
[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]. Kutkowska-Kazmierczak A, Obersztyn E, Bonnefont JP, Rosinska-Borkowska D, Mazurczak T, Sobczynska-Tomaszewska A, Mazurczak T. Med Wieku Rozwoj. 2008;12(3):748-53. |
| Microcephaly | ||
| IKBKG | ||
| Adult Child Females Homo sapiens Molecular Sequence Data Reverse Transcriptase Polymerase Chain Reaction | ||
| 7 (39.0%) |
8747421 |
Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case. Fujino O, Hashimoto K, Fujita T, Enokido H, Komatsuzaki H, Asano G, Sato J, Morimatsu Y. Brain Dev. 1995;17(6):425-7. |
| Brachycephaly | ||
| Autopsy Brain Cell Movement Fatal Outcome Females Homo sapiens Infant Neurons Pigmentation Disorders Seizures | ||
| 7 (39.0%) |
7202148 |
Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. Ross DL, Liwnicz BH, Chun RW, Gilbert E. Neurology. 1982;32(9):1013-6. |
| Macrocephaly | ||
| Brain Brain Diseases Homo sapiens Infant, Newborn Male Pigmentation Disorders Seizures | ||
| 7 (39.0%) |
6864415 |
Ocular lesions in incontinentia pigmenti. Raab EL. J Pediatr Ophthalmol Strabismus. 1983;20(2):42-8. |
| Microcephaly | ||
| IKBKG | ||
| Child, Preschool Eye Females Homo sapiens Infant Infant, Newborn Intellectual Disability Pigmentation Disorders Syndrome | ||
| 7 (39.0%) |
485028 |
[Incontinentia pigmenti. Study of 7 cases, 2 in men (author's transl)]. De Dulanto Campos C, Camacho-Martinez F. Ann Dermatol Venereol. 1979;106(4):337-43. |
| Microcephaly | ||
| Cerebral Palsy Child, Preschool Females Homo sapiens Infant Infant, Newborn Male Pigmentation Disorders Sex Factors X Chromosome | ||
| 16 (37.8%) |
23405946 |
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. Carlberg VM, Lofgren SM, Mann JA, Austin JP, Nolt D, Shereck EB, Davila-Saldana B, Zonana J, Krol AL. Pediatr Dermatol. 2014;31(6):716-21. |
| Periorbital wrinkles Osteopetrosis | ||
| Ectodermal Dysplasia Genetic Diseases, X-Linked Homo sapiens Immunologic Deficiency Syndromes Infant, Newborn Lymphedema Male Opportunistic Infections Osteopetrosis | ||
| 17 (34.4%) |
29269721 |
Orthodontic Treatment for Bloch-Sulzberger Syndrome in Patient with Cleft Lip and Palate. Nojima K, Onoda M, Nishii Y, Sueishi K. Bull Tokyo Dent Coll. 2017;58(4):259-267. |
| Hypodontia Bilateral cleft lip | ||
| Child Cleft Palate Females Homo sapiens Orthodontics, Corrective | ||
| 18 (32.1%) |
25441681 |
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. Pengelly RJ, Upstill-Goddard R, Arias L, Martinez J, Gibson J, Knut M, Collins AL, Ennis S, Collins A, Briceno I. Clin Genet. 2015;88(5):441-9. |
| Pierre-Robin sequence Cleft lip | ||
| IKBKG IRF6 | ||
| Adult Child Cleft Palate DNA Mutational Analysis Exome Females Homo sapiens Infant Interferon Regulatory Factors Male Mutation Phenotype Syndrome | ||
| 19 (31.0%) |
581773 |
Focal dermal hypoplasia. Pessoa VE, Surana RB. J Natl Med Assoc. 1979;71(1):69-70. |
| Syndactyly | ||
| Bone and Bones Ectodermal Dysplasia Females Follow-Up Studies Homo sapiens Infant Mesoderm Skin | ||
| 20 (29.4%) |
6521980 |
Incontinentia pigmenti associated with nasolacrimal duct obstruction. Smith B, Bedrossian EH Jr. Ophthalmic Surg. 1984;15(12):980-2. |
| Strabismus Nasolacrimal duct obstruction | ||
| Dacryocystorhinostomy Females Homo sapiens Infant Lacrimal Apparatus Lacrimal Duct Obstruction Pigmentation Disorders Syndrome |
Total: 67
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000668 | Hypodontia | Very frequent (99-80%) |
| HP:0000988 | Skin rash | Very frequent (99-80%) |
| HP:0001000 | Abnormality of skin pigmentation | Very frequent (99-80%) |
| HP:0001053 | Hypopigmented skin patches | Very frequent (99-80%) |
| HP:0001231 | Abnormal fingernail morphology | Very frequent (99-80%) |
| HP:0001595 | Abnormal hair morphology | Very frequent (99-80%) |
| HP:0001597 | Abnormality of the nail | Very frequent (99-80%) |
| HP:0001804 | Hypoplastic fingernail | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0100585 | Telangiectasia of the skin | Very frequent (99-80%) |
| HP:0200043 | Verrucae | Very frequent (99-80%) |
| HP:0000202 | Oral cleft | Frequent (79-30%) |
| HP:0000364 | Hearing abnormality | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000962 | Hyperkeratosis | Frequent (79-30%) |
| HP:0000975 | Hyperhidrosis | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001596 | Alopecia | Frequent (79-30%) |
| HP:0001880 | Eosinophilia | Frequent (79-30%) |
| HP:0002558 | Supernumerary nipple | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002797 | Osteolysis | Frequent (79-30%) |
| HP:0004097 | Deviation of finger | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005815 | Supernumerary ribs | Frequent (79-30%) |
| HP:0005922 | Abnormal hand morphology | Frequent (79-30%) |
| HP:0006482 | Abnormality of dental morphology | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0010978 | Abnormality of immune system physiology | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0100555 | Asymmetric growth | Frequent (79-30%) |
| HP:0200042 | Skin ulcer | Frequent (79-30%) |
| HP:0000491 | Keratitis | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000532 | Abnormal chorioretinal morphology | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000554 | Uveitis | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000573 | Retinal hemorrhage | Occasional (29-5%) |
| HP:0000592 | Blue sclerae | Occasional (29-5%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001257 | Spasticity | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001537 | Umbilical hernia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0001810 | Dystrophic toenail | Occasional (29-5%) |
| HP:0001821 | Broad nail | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002120 | Cerebral cortical atrophy | Occasional (29-5%) |
| HP:0002383 | Encephalitis | Occasional (29-5%) |
| HP:0002637 | Cerebral ischemia | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0004050 | Absent hand | Occasional (29-5%) |
| HP:0004374 | Hemiplegia/hemiparesis | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007850 | Retinal vascular proliferation | Occasional (29-5%) |
| HP:0008388 | Abnormal toenail morphology | Occasional (29-5%) |
| HP:0008402 | Ridged fingernail | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 88
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000488 | Retinopathy | 13 |
| HP:0001250 | Seizures | 10 |
| HP:0001880 | Eosinophilia | 6 |
| HP:0002721 | Immunodeficiency | 6 |
| HP:0000541 | Retinal detachment | 5 |
| HP:0001298 | Encephalopathy | 5 |
| HP:0010816 | Epidermal nevus | 5 |
| HP:0000822 | Hypertension | 3 |
| HP:0000618 | Blindness | 2 |
| HP:0000639 | Nystagmus | 2 |
| HP:0001028 | Hemangioma | 2 |
| HP:0001269 | Hemiparesis | 2 |
| HP:0001297 | Stroke | 2 |
| HP:0001945 | Fever | 2 |
| HP:0002084 | Encephalocele | 2 |
| HP:0002140 | Ischemic stroke | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0008052 | Retinal fold | 2 |
| HP:0008404 | Nail dystrophy | 2 |
| HP:0010783 | Erythema | 2 |
| HP:0011002 | Osteopetrosis | 2 |
| HP:0031525 | Keratoacanthoma | 2 |
| HP:0100556 | Hemiatrophy | 2 |
| HP:0100699 | Scarring | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000256 | Macrocephaly | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0000555 | Leukocoria | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000579 | Nasolacrimal duct obstruction | 1 |
| HP:0000607 | Periorbital wrinkles | 1 |
| HP:0000609 | Optic nerve hypoplasia | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000668 | Hypodontia | 1 |
| HP:0000951 | Abnormality of the skin | 1 |
| HP:0000956 | Acanthosis nigricans | 1 |
| HP:0000969 | Edema | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001022 | Albinism | 1 |
| HP:0001159 | Syndactyly | 1 |
| HP:0001195 | Single umbilical artery | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001528 | Hemihypertrophy | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002007 | Frontal bossing | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002133 | Status epilepticus | 1 |
| HP:0002718 | Recurrent bacterial infections | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0003155 | Elevated alkaline phosphatase | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003764 | Nevus | 1 |
| HP:0005593 | Macular hypopigmented whorls, streaks, and patches | 1 |
| HP:0005602 | Progressive vitiligo | 1 |
| HP:0006846 | Acute encephalopathy | 1 |
| HP:0007535 | Hypopigmented streaks | 1 |
| HP:0007546 | Linear hyperpigmentation | 1 |
| HP:0007894 | Hypopigmentation of the fundus | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0007957 | Corneal opacity | 1 |
| HP:0007973 | Retinal dysplasia | 1 |
| HP:0008392 | Subungual hyperkeratosis | 1 |
| HP:0008443 | Spinal deformities | 1 |
| HP:0009915 | Corneal asymmetry | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0012387 | Bronchitis | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030048 | Colpocephaly | 1 |
| HP:0030906 | Suck reflex | 1 |
| HP:0031864 | Bacteremia | 1 |
| HP:0032101 | Unusual infection | 1 |
| HP:0032282 | Contact dermatitis | 1 |
| HP:0040238 | Impaired neutrophil chemotaxis | 1 |
| HP:0040292 | Left hemiplegia | 1 |
| HP:0100021 | Cerebral palsy | 1 |
| HP:0100786 | Hypersomnia | 1 |
| HP:0200034 | Papule | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |
| HP:0500041 | Myopic astigmatism | 1 |